A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692466



Internal ID15429118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92946398..92993514hg38UCSC Ensembl
Innerchr14:93412743..93459859hg19UCSC Ensembl
Innerchr14:92482496..92529612hg18UCSC Ensembl
Innerchr14:92482496..92529612hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3847117
hg1947117
hg1847117
hg1747117
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)nssv692466
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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