A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5098



Internal ID15544161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66771322..66790719hg38UCSC Ensembl
Outerchr8:67683557..67702954hg19UCSC Ensembl
Outerchr8:67846111..67865508hg18UCSC Ensembl
Outerchr8:67846111..67865508hg17UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg387264
hg197264
hg187264
hg177264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6238
Supporting Variants
SamplesNA19129
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)nssv5098
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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