A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10613



Internal ID15195499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22670444..22701874hg38UCSC Ensembl
Outerchr8:22527957..22559387hg19UCSC Ensembl
Outerchr8:22583902..22615332hg18UCSC Ensembl
Outerchr8:22583902..22615332hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg388055
hg198055
hg188055
hg178055
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6117
Supporting Variants
SamplesNA18956
Known GenesEGR3
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)nssv10613
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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