A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6223



Internal ID15190955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53216598..53228563hg38UCSC Ensembl
Outerchr8:54129158..54141123hg19UCSC Ensembl
Outerchr8:54291711..54303676hg18UCSC Ensembl
Outerchr8:54291711..54303676hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg387798
hg197798
hg187798
hg177798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6193
Supporting Variants
SamplesNA12156
Known GenesOPRK1
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)nssv6223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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