A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8474



Internal ID15188704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23361537..23395190hg38UCSC Ensembl
Outerchr8:23219050..23252703hg19UCSC Ensembl
Outerchr8:23274995..23308648hg18UCSC Ensembl
Outerchr8:23274995..23308648hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg385782
hg195782
hg185782
hg175782
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6118
Supporting Variants
SamplesNA12156
Known GenesLOC100507156, LOXL2
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)nssv8474
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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