A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704342



Internal ID15440994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684477..240776888hg38UCSC Ensembl
Innerchr2:241623894..241716305hg19UCSC Ensembl
Innerchr2:241272567..241364978hg18UCSC Ensembl
Innerchr2:241343884..241436295hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3892412
hg1992412
hg1892412
hg1792412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527844
Supporting Variants
Samples
Known GenesAQP12A, KIF1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704342
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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