A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705292



Internal ID15095258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40371712..40388490hg38UCSC Ensembl
Innerchr21:41743639..41760417hg19UCSC Ensembl
Innerchr21:40665509..40682287hg18UCSC Ensembl
Innerchr21:40665509..40682287hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3816779
hg1916779
hg1816779
hg1716779
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528658
Supporting Variants
Samples
Known GenesDSCAM, DSCAM-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705292
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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