A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv668472



Internal ID15058438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..92990208hg38UCSC Ensembl
Innerchr14:93407062..93456553hg19UCSC Ensembl
Innerchr14:92476815..92526306hg18UCSC Ensembl
Innerchr14:92476815..92526306hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3849492
hg1949492
hg1849492
hg1749492
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)nssv668472
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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