A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9470



Internal ID15540184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143850123..143870158hg38UCSC Ensembl
Outerchr8:144932295..144944326hg19UCSC Ensembl
Outerchr8:145004283..145016314hg18UCSC Ensembl
Outerchr8:145004283..145016314hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3818873
hg1918873
hg1818873
hg1718873
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6444
Supporting Variants
SamplesNA18517
Known GenesEPPK1
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)nssv9470
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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