A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584820



Internal ID16372229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240662330..240795337hg38UCSC Ensembl
Innerchr2:241601747..241734754hg19UCSC Ensembl
Innerchr2:241250420..241383427hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38133008
hg19133008
hg18133008
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151193
Samples1780854219_A
Known GenesAQP12A, AQP12B, KIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584820
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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