A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512



Internal ID15203211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118416012..118445621hg38UCSC Ensembl
Outerchr11:118286727..118316336hg19UCSC Ensembl
Outerchr11:117791937..117821546hg18UCSC Ensembl
Outerchr11:117791937..117821546hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg387591
hg197591
hg187591
hg177591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5383
SamplesNA19129
Known GenesKMT2A, LOC100131626
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)nsv512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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