A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694347



Internal ID15084313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:29332490..29500165hg38UCSC Ensembl
Innerchr10:29621419..29789094hg19UCSC Ensembl
Innerchr10:29661425..29829100hg18UCSC Ensembl
Innerchr10:29661425..29829100hg17UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg38167676
hg19167676
hg18167676
hg17167676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519798
Supporting Variants
Samples
Known GenesPTCHD3P1, SVIL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694347
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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