A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565947



Internal ID16006670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:102001510..102204240hg38UCSC Ensembl
Innerchr14:102467847..102670577hg19UCSC Ensembl
Innerchr14:101537600..101740330hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38202731
hg19202731
hg18202731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv834243
Samples
Known GenesDYNC1H1, HSP90AA1, WDR20
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565947
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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