A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564634



Internal ID16352043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43337104..43778538hg38UCSC Ensembl
Innerchr14:43806307..44247741hg19UCSC Ensembl
Innerchr14:42876057..43317491hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38441435
hg19441435
hg18441435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3681n54
Supporting Variantsnssv1148573, nssv1148574
Samples1780862300_A, HGDP01172
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564634
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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