A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696386



Internal ID15433038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196275196..196278573hg38UCSC Ensembl
Innerchr3:196002067..196005444hg19UCSC Ensembl
Innerchr3:197486464..197489841hg18UCSC Ensembl
Innerchr3:197490377..197493754hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383378
hg193378
hg183378
hg173378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518925
Supporting Variants
Samples
Known GenesPCYT1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696386
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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