A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6284



Internal ID15551178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85640850..85660947hg38UCSC Ensembl
Outerchr8:86553079..86573176hg19UCSC Ensembl
Outerchr8:86740331..86760428hg18UCSC Ensembl
Outerchr8:86740331..86760428hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3826836
hg1926836
hg1826836
hg1726836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10627, nssv5108, nssv11189, nssv9754, nssv10629, nssv3666, nssv3664, nssv744, nssv6233, nssv11188
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA19240, NA19129
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)nsv6284
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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