A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6075



Internal ID15550948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9746147..9779958hg38UCSC Ensembl
Outerchr8:9603657..9637468hg19UCSC Ensembl
Outerchr8:9641067..9674878hg18UCSC Ensembl
Outerchr8:9641067..9674878hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385473
hg195473
hg185473
hg175473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5058
SamplesNA19129
Known GenesTNKS
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)nsv6075
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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