A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6294



Internal ID15551189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:89693552..89737873hg38UCSC Ensembl
Outerchr8:90705780..90750101hg19UCSC Ensembl
Outerchr8:90774902..90819223hg18UCSC Ensembl
Outerchr8:90774902..90819223hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3844322
hg1944322
hg1844322
hg1744322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1762
SamplesNA18555
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)nsv6294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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