A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674530



Internal ID15064496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..92993514hg38UCSC Ensembl
Innerchr14:93407062..93459859hg19UCSC Ensembl
Innerchr14:92476815..92529612hg18UCSC Ensembl
Innerchr14:92476815..92529612hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3852798
hg1952798
hg1852798
hg1752798
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)nssv674530
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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