A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564471



Internal ID16351880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:40963145..41590078hg38UCSC Ensembl
Innerchr14:41432350..42059281hg19UCSC Ensembl
Innerchr14:40502100..41129031hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38626934
hg19626932
hg18626932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148702
SamplesHGDP00745
Known GenesLOC644919
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564471
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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