A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6400



Internal ID15551306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:131240522..131274777hg38UCSC Ensembl
Outerchr8:132252769..132287024hg19UCSC Ensembl
Outerchr8:132321951..132356206hg18UCSC Ensembl
Outerchr8:132321951..132356206hg17UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385445
hg195445
hg185445
hg175445
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689
SamplesNA12878
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)nsv6400
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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