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 15 regions match your request.

 
 
 
chr1
 
chr2
 
 
chr9
 
chr11
 
 
chr14
 
chr16
 
 
 
 
 
chr17

Name Type Description Position Match Score
nssv547828 supporting_variant:DGVa LGALS9B chr17:20221409..20464225 100
nsv471495 toplevel_variant:DGVa LGALS9B chr17:20221409..20464225 100
nssv548150 supporting_variant:DGVa LGALS9B chr17:20353176..20370848 100
nsv471392 toplevel_variant:DGVa LGALS9B chr17:20353176..20370848 100
GALE|NM_001127621 transcript chr1:24122089..24126060 n/a
GALE|NM_000403 transcript chr1:24122089..24127034 n/a
GALE|NM_001008216 transcript chr1:24122089..24127294 n/a
GALNT3|NM_004482 transcript chr2:166604313..166650803 n/a
GALT|NM_000155 transcript chr9:34646635..34650573 n/a
GALNT12|NM_024642 transcript chr9:101569981..101612363 n/a
GAL|NM_015973 transcript chr11:68451983..68458643 n/a
GALC|NM_000153 transcript chr14:88399358..88459615 n/a
GALC|NM_001201402 transcript chr14:88399358..88460009 n/a
GALNS|NM_000512 transcript chr16:88880142..88923374 n/a
GALK1|NM_000154 transcript chr17:73754018..73761280 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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