A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694676



Internal ID15084642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42502887..42506833hg38UCSC Ensembl
Innerchr21:43922997..43926943hg19UCSC Ensembl
Innerchr21:42796066..42800012hg18UCSC Ensembl
Innerchr21:42796066..42800012hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383947
hg193947
hg183947
hg173947
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521904
Supporting Variants
Samples
Known GenesSLC37A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694676
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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