A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv832180



Internal ID16126136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93044186..93059888hg38UCSC Ensembl
Innerchr14:93510531..93526233hg19UCSC Ensembl
Innerchr14:92580284..92595986hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3815703
hg1915703
hg1815703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565529
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)nssv832180
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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