A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662012



Internal ID15051978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..92987331hg38UCSC Ensembl
Innerchr14:93407062..93453676hg19UCSC Ensembl
Innerchr14:92476815..92523429hg18UCSC Ensembl
Innerchr14:92476815..92523429hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3846615
hg1946615
hg1846615
hg1746615
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)nssv662012
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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