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 10 regions match your request.

 
 
 
 
 
 
 
 
 
 
chr1

Name Type Description Position Match Score
nssv548189 supporting_variant:DGVa CFH chr1:196713344..196739366 100
nsv471393 toplevel_variant:DGVa CFH chr1:196713344..196739366 100
nssv548050 supporting_variant:DGVa CFHR3 chr1:196743930..196762872 100
nsv471352 toplevel_variant:DGVa CFHR3 chr1:196743930..196762872 100
nssv548211 supporting_variant:DGVa CFHR1 chr1:196782097..196890345 100
nssv548052 supporting_variant:DGVa CFHR1 chr1:196788861..196801316 100
nsv471353 toplevel_variant:DGVa CFHR1 chr1:196788861..196801316 100
nssv548055 supporting_variant:DGVa CFHR4 chr1:196857212..196887762 100
nsv471354 toplevel_variant:DGVa CFHR4 chr1:196857212..196887762 100
FH|NM_000143 transcript chr1:241660857..241683085 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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