A curated catalogue of human genomic structural variation


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Examples: chr7:71890181..72690180, CFTR, AC108171.3, nsv529033.
  
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The following 14 regions match your request.

 
 
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Name Type Description Position Match Score
nssv558416 supporting_variant:DGVa MGC50273 chr2:132552534..132559234 100
nsv482055 toplevel_variant:DGVa MGC50273 chr2:132552534..132559234 100
nssv558451 supporting_variant:DGVa MGC29506 chr5:138723258..138725605 100
nsv482090 toplevel_variant:DGVa MGC29506 chr5:138723258..138725605 100
nssv547858 supporting_variant:DGVa MGC119295 chr7:102114386..102418049 100
nssv547996 supporting_variant:DGVa TUBGCP5 chr15:22805637..22912605 100
nssv548105 supporting_variant:DGVa TUBGCP5 chr15:22833395..22873891 100
nsv471375 toplevel_variant:DGVa TUBGCP5 chr15:22833395..22873891 100
nssv548386 supporting_variant:DGVa DGCR6L chr22:20305447..20504066 100
nssv1607666 supporting_variant:DGVa A processed transcript of the GCSH gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr1:168024597..168025731 1
nsv930468 toplevel_variant:DGVa A processed transcript of the GCSH gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample chr1:168024597..168025731 1
GC|NM_000583 transcript chr4:72607411..72650079 n/a
GC|NM_001204307 transcript chr4:72607411..72669758 n/a
GC|NM_001204306 transcript chr4:72607411..72671237 n/a
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- Tracks
- Breakpoints
   
Breakpoint annotations from Lam et al (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?] Annotations from Conrad et al [?] Breakpoint annotations from Pang 2012 (Blue:Gain;Red:Loss;Indigo:Inversion;Brown:Complex) [?]
- CGH Arrays
   
Agilent 244k [?] Clones on SMRT BAC Array [?] 
- CN Assays
   
Life Technologies TaqMan Copy Number Assays [?]  
- Chromosome
   
Cytogenetic Bands [?] Assembly [?] Gap [?]
- Clones
   
BAC End Pairs [?] Fosmid End Pairs [?] 
- Disease
   
ISCA Curated clinically relevant regions [?] Disease Genes (OMIM) [?] DECIPHER: Chromosomal Imbalance and Phenotype in Humans (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?]
ISCA Clinical cytogenetic testing (Blue:Gain;Red:Loss;Brown:Complex;Black:NA) [?] DECIPHER Genomic Disorders [?] 
- Gene
   
RefSeq Genes [?] mRNA [?] microRNA [?]
- General
   
Personal Genome Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] SNPs [?] 
dbRIP [?] RepeatMasker [?] 
- SNP Arrays
   
AFFY SNP Array 5.0 [?] ILMN HumanHap 300 [?] ILMN HumanHap 650Y [?]
AFFY SNP Array 6.0 [?] ILMN HumanHap 550 [?] ILMN Human 660W [?]
AFFY CytoScan HD [?] ILMN Human 610 Quad [?] ILMN HumanHap 1M [?]
- Segmental Duplications
   
UCSC segmental duplications [?]  
- Study Variants
   
DGV Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] Unannotated Studies (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] DGV Gold Standard Variants (blue=Gain; red=Loss; brown=Gain+Loss) [?]
Supporting Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inverison;Black:Unknown) [?] Nat. Rev. Gen. CNV Map - Inclusive (blue=Gain; red=Loss; brown=Gain+Loss) [?] OPGP Affymetrix CytoHD Variants (blue=Gain; red=Loss; solidbox=AFFY_FILTER; solidline=MULTI_ALGO; dashedline=ONLY_CHAS) [?]
DGV Version 1 Structural Variants (Blue:Gain;Red:Loss;Brown:Complex;Purple:Inversion;Black:Unknown) [?] Nat. Rev. Gen. CNV Map - Stringent (blue=Gain; red=Loss; brown=Gain+Loss) [?] 
- Overview
   
Chromosome (overview)   

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