A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7642



Internal ID15552672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1749402..1784428hg38UCSC Ensembl
Outerchr11:1770632..1805658hg19UCSC Ensembl
Outerchr11:1727208..1762234hg18UCSC Ensembl
Outerchr11:1727208..1762234hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386446
hg196446
hg186446
hg176446
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8874, nssv2855
SamplesNA12156, NA18555
Known GenesCTSD, IFITM10, MOB2
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)nsv7642
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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