A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564901



Internal ID16005624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63312034..63385459hg38UCSC Ensembl
Innerchr14:63778748..63852177hg19UCSC Ensembl
Innerchr14:62848501..62921930hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3873426
hg1973430
hg1873430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3723n54
Supporting Variantsnssv1149495
Samples1780862274_A
Known GenesGPHB5, PPP2R5E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564901
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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