A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705100



Internal ID15095066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46595956..46632926hg38UCSC Ensembl
Innerchr21:48015869..48052838hg19UCSC Ensembl
Innerchr21:46840297..46877266hg18UCSC Ensembl
Innerchr21:46840297..46877266hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3836971
hg1936970
hg1836970
hg1736970
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528495
Supporting Variants
Samples
Known GenesS100B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705100
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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