A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv832380



Internal ID16126336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93115086..93116008hg38UCSC Ensembl
Innerchr14:93581431..93582353hg19UCSC Ensembl
Innerchr14:92651184..92652106hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38923
hg19923
hg18923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565557
Supporting Variants
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv832380
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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