A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv390



Internal ID15548555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73677143..73721854hg38UCSC Ensembl
Outerchr11:73388188..73432899hg19UCSC Ensembl
Outerchr11:73065836..73110547hg18UCSC Ensembl
Outerchr11:73065836..73110547hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3844712
hg1944712
hg1844712
hg1744712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8934
SamplesNA12156
Known GenesRAB6A
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)nsv390
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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