A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517870



Internal ID15445163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46122865..46155458hg38UCSC Ensembl
Innerchr21:47542779..47575372hg19UCSC Ensembl
Innerchr21:46367207..46399800hg18UCSC Ensembl
Innerchr21:46367207..46399800hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3832594
hg1932594
hg1832594
hg1732594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255n21
Supporting Variantsnssv695276
Samples
Known GenesCOL6A2, FTCD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517870
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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