A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142



Internal ID15204336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:31745213..31777374hg38UCSC Ensembl
Outerchr8:31602729..31634890hg19UCSC Ensembl
Outerchr8:31722271..31754432hg18UCSC Ensembl
Outerchr8:31722271..31754432hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg387110
hg197110
hg187110
hg177110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5071
SamplesNA19129
Known GenesNRG1
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)nsv6142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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