A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519624



Internal ID15446917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684477..240737359hg38UCSC Ensembl
Innerchr2:241623894..241676776hg19UCSC Ensembl
Innerchr2:241272567..241325449hg18UCSC Ensembl
Innerchr2:241343884..241396766hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3852883
hg1952883
hg1852883
hg1752883
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657207, nssv702547, nssv689126
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519624
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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