A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564960



Internal ID16005683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66982627..67083086hg38UCSC Ensembl
Innerchr14:67449344..67549803hg19UCSC Ensembl
Innerchr14:66519097..66619556hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38100460
hg19100460
hg18100460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv828625
Samples
Known GenesGPHN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564960
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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