A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3659



Internal ID15538387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66819484..66853658hg38UCSC Ensembl
Outerchr8:67731719..67765893hg19UCSC Ensembl
Outerchr8:67894273..67928447hg18UCSC Ensembl
Outerchr8:67894273..67928447hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg385576
hg195576
hg185576
hg175576
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6239
Supporting Variants
SamplesNA12878
Known GenesC8orf44-SGK3, SGK3
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)nssv3659
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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