A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586983



Internal ID18538578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240654527..240776474hg38UCSC Ensembl
Innerchr2:241593944..241715891hg19UCSC Ensembl
Innerchr2:241242617..241364564hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38121948
hg19121948
hg18121948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010890
Supporting Variants
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586983
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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