A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378



Internal ID15551281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125796610..125808301hg38UCSC Ensembl
Outerchr8:126808854..126820545hg19UCSC Ensembl
Outerchr8:126878036..126889727hg18UCSC Ensembl
Outerchr8:126878036..126889727hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811692
hg1911692
hg1811692
hg1711692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8552
SamplesNA12156
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)nsv6378
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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