A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691830



Internal ID15081796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..93110198hg38UCSC Ensembl
Innerchr14:93407062..93576543hg19UCSC Ensembl
Innerchr14:92476815..92646296hg18UCSC Ensembl
Innerchr14:92476815..92646296hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38169482
hg19169482
hg18169482
hg17169482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517691
Supporting Variants
Samples
Known GenesITPK1, ITPK1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691830
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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