A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv744



Internal ID15545512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:85651966..85660947hg38UCSC Ensembl
Outerchr8:86564195..86573176hg19UCSC Ensembl
Outerchr8:86751447..86760428hg18UCSC Ensembl
Outerchr8:86751447..86760428hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg3827098
hg1927098
hg1827098
hg1727098
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6284
Supporting Variants
SamplesNA19240
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)nssv744
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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