A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692205



Internal ID15082171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940903..92997673hg38UCSC Ensembl
Innerchr14:93407248..93464018hg19UCSC Ensembl
Innerchr14:92477001..92533771hg18UCSC Ensembl
Innerchr14:92477001..92533771hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3856771
hg1956771
hg1856771
hg1756771
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517691
Supporting Variants
Samples
Known GenesITPK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692205
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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