A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701892



Internal ID15091858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46052727..46163592hg38UCSC Ensembl
Innerchr21:47472641..47583506hg19UCSC Ensembl
Innerchr21:46297069..46407934hg18UCSC Ensembl
Innerchr21:46297069..46407934hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38110866
hg19110866
hg18110866
hg17110866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525728
Supporting Variants
Samples
Known GenesCOL6A2, FTCD, SPATC1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701892
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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