A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5129



Internal ID15544124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128704249..128736579hg38UCSC Ensembl
Outerchr8:129716495..129748825hg19UCSC Ensembl
Outerchr8:129785677..129818007hg18UCSC Ensembl
Outerchr8:129785677..129818007hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385709
hg195709
hg185709
hg175709
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6392
Supporting Variants
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)nssv5129
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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