A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv763



Internal ID15544340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:106154967..106189146hg38UCSC Ensembl
Outerchr8:107167195..107201374hg19UCSC Ensembl
Outerchr8:107236371..107270550hg18UCSC Ensembl
Outerchr8:107236371..107270550hg17UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg386816
hg196816
hg186816
hg176816
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341
Supporting Variants
SamplesNA19240
Known Genes
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)nssv763
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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