A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6393



Internal ID15551298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128752643..128786444hg38UCSC Ensembl
Outerchr8:129764889..129798690hg19UCSC Ensembl
Outerchr8:129834071..129867872hg18UCSC Ensembl
Outerchr8:129834071..129867872hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg385887
hg195887
hg185887
hg175887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5130, nssv2800
SamplesNA18555, NA19129
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)nsv6393
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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