A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3699



Internal ID15538427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143853251..143867866hg38UCSC Ensembl
Outerchr8:144935423..144942034hg19UCSC Ensembl
Outerchr8:145007411..145014022hg18UCSC Ensembl
Outerchr8:145007411..145014022hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389141
hg199141
hg189141
hg179141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6444
Supporting Variants
SamplesNA12878
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)nssv3699
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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