A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5905



Internal ID15196790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38249344..38280681hg38UCSC Ensembl
Outerchr21:39621266..39652603hg19UCSC Ensembl
Outerchr21:38543136..38574473hg18UCSC Ensembl
Outerchr21:38543136..38574473hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg387920
hg197920
hg187920
hg177920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3514
Supporting Variants
SamplesNA19129
Known GenesKCNJ15
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)nssv5905
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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