A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564898



Internal ID16005621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63308966..63375173hg38UCSC Ensembl
Innerchr14:63775684..63841891hg19UCSC Ensembl
Innerchr14:62845437..62911644hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3866208
hg1966208
hg1866208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3723n54
Supporting Variantsnssv828233
Samples
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564898
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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