A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6194



Internal ID15551079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53242050..53273204hg38UCSC Ensembl
Outerchr8:54154610..54185764hg19UCSC Ensembl
Outerchr8:54317163..54348317hg18UCSC Ensembl
Outerchr8:54317163..54348317hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg388157
hg198157
hg188157
hg178157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6224
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)nsv6194
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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