A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6136



Internal ID15551015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:28958173..28990966hg38UCSC Ensembl
Outerchr8:28815690..28848483hg19UCSC Ensembl
Outerchr8:28871609..28904402hg18UCSC Ensembl
Outerchr8:28871609..28904402hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386931
hg196931
hg186931
hg176931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639
SamplesNA12878
Known GenesHMBOX1
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)nsv6136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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