A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513



Internal ID15203222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118488516..118515388hg38UCSC Ensembl
Outerchr11:118359231..118386103hg19UCSC Ensembl
Outerchr11:117864441..117891313hg18UCSC Ensembl
Outerchr11:117864441..117891313hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg385030
hg195030
hg185030
hg175030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996
SamplesNA12878
Known GenesKMT2A
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)nsv513
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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