A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528568



Internal ID15109175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31152516..31297526hg38UCSC Ensembl
Innerchr13:31726653..31871663hg19UCSC Ensembl
Innerchr13:30624653..30769663hg18UCSC Ensembl
Innerchr13:30624653..30769663hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38145011
hg19145011
hg18145011
hg17145011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705187
Samples
Known GenesB3GALTL, HSPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528568
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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