A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657207



Internal ID15393859
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519624
Supporting Variants
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657207
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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