A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694100



Internal ID15430752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:178846246..178848874hg38UCSC Ensembl
Innerchr2:179710973..179713601hg19UCSC Ensembl
Innerchr2:179419218..179421846hg18UCSC Ensembl
Innerchr2:179536479..179539107hg17UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382629
hg192629
hg182629
hg172629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521818
Supporting Variants
Samples
Known GenesCCDC141
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694100
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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