A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10314



Internal ID15542484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44810952..44840536hg38UCSC Ensembl
Outerchr21:46230867..46260451hg19UCSC Ensembl
Outerchr21:45055295..45084879hg18UCSC Ensembl
Outerchr21:45055295..45084879hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389921
hg199921
hg189921
hg179921
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540
Supporting Variants
SamplesNA18956
Known GenesSUMO3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv10314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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