A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677468



Internal ID15067434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92940717..92958943hg38UCSC Ensembl
Innerchr14:93407062..93425288hg19UCSC Ensembl
Innerchr14:92476815..92495041hg18UCSC Ensembl
Innerchr14:92476815..92495041hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3818227
hg1918227
hg1818227
hg1718227
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)nssv677468
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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