A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336



Internal ID15551235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:104088091..104113763hg38UCSC Ensembl
Outerchr8:105100319..105125991hg19UCSC Ensembl
Outerchr8:105169495..105195167hg18UCSC Ensembl
Outerchr8:105169495..105195167hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg385658
hg195658
hg185658
hg175658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8534
SamplesNA12156
Known GenesRIMS2
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)nsv6336
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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