A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5114



Internal ID15197456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:86163511..86208823hg38UCSC Ensembl
Outerchr8:87175740..87221052hg19UCSC Ensembl
Outerchr8:87244856..87290168hg18UCSC Ensembl
Outerchr8:87244856..87290168hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3845313
hg1945313
hg1845313
hg1745313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6290
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)nssv5114
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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