A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520



Internal ID15549985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120459044..120493235hg38UCSC Ensembl
Outerchr11:120329753..120363944hg19UCSC Ensembl
Outerchr11:119834963..119869154hg18UCSC Ensembl
Outerchr11:119834963..119869154hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg386792
hg196792
hg186792
hg176792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045
SamplesNA19240
Known GenesARHGEF12
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)nsv520
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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