A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564956



Internal ID16005679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66672337..66801290hg38UCSC Ensembl
Innerchr14:67139055..67268008hg19UCSC Ensembl
Innerchr14:66208808..66337761hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38128954
hg19128954
hg18128954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3734n54
Supporting Variantsnssv828621
Samples
Known GenesGPHN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564956
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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