A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6413



Internal ID15551320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:136033566..136065667hg38UCSC Ensembl
Outerchr8:137045809..137077910hg19UCSC Ensembl
Outerchr8:137114991..137147092hg18UCSC Ensembl
Outerchr8:137114991..137147092hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg387186
hg197186
hg187186
hg177186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5135
SamplesNA19129
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)nsv6413
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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