A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949407



Internal ID16243363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46384034..46457681hg38UCSC Ensembl
Innerchr21:47803949..47877594hg19UCSC Ensembl
Innerchr21:46628377..46702022hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3873648
hg1973646
hg1873646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587995
Supporting Variants
Samples
Known GenesPCNT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949407
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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