A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5089



Internal ID15544172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:57057588..57076105hg38UCSC Ensembl
Outerchr8:57970147..57988664hg19UCSC Ensembl
Outerchr8:58132701..58151218hg18UCSC Ensembl
Outerchr8:58132701..58151218hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387596
hg197596
hg187596
hg177596
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6205
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)nssv5089
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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