A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3666



Internal ID15538394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85652879..85660941hg38UCSC Ensembl
Outerchr8:86565108..86573170hg19UCSC Ensembl
Outerchr8:86752360..86760422hg18UCSC Ensembl
Outerchr8:86752360..86760422hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3831676
hg1931676
hg1831676
hg1731676
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6284
Supporting Variants
SamplesNA12878
Known GenesREXO1L1, REXO1L2P
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)nssv3666
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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