A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6196



Internal ID15551081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:54629539..54638907hg38UCSC Ensembl
Outerchr8:55542099..55551467hg19UCSC Ensembl
Outerchr8:55704652..55714020hg18UCSC Ensembl
Outerchr8:55704652..55714020hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg389369
hg199369
hg189369
hg179369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8492
SamplesNA12156
Known GenesRP1
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)nsv6196
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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