A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565557



Internal ID16352966
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3847n54
Supporting Variantsnssv832382, nssv832380, nssv832381
Samples
Known GenesITPK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565557
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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