A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5096



Internal ID15544164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60384118..60412543hg38UCSC Ensembl
Outerchr8:61296677..61325102hg19UCSC Ensembl
Outerchr8:61459231..61487656hg18UCSC Ensembl
Outerchr8:61459231..61487656hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3810848
hg1910848
hg1810848
hg1710848
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6217
Supporting Variants
SamplesNA19129
Known GenesLOC100505532
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)nssv5096
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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