A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695764



Internal ID15432416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172108243..172110021hg38UCSC Ensembl
Innerchr2:172972971..172974749hg19UCSC Ensembl
Innerchr2:172681217..172682995hg18UCSC Ensembl
Innerchr2:172798478..172800256hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381779
hg191779
hg181779
hg171779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518335
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695764
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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