A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5105



Internal ID15544153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:74392946..74425538hg38UCSC Ensembl
Outerchr8:75305181..75337773hg19UCSC Ensembl
Outerchr8:75467736..75500328hg18UCSC Ensembl
Outerchr8:75467736..75500328hg17UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3832593
hg1932593
hg1832593
hg1732593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6260
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)nssv5105
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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