A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517



Internal ID15549952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120080039..120095318hg38UCSC Ensembl
Outerchr11:119950748..119966026hg19UCSC Ensembl
Outerchr11:119455958..119471236hg18UCSC Ensembl
Outerchr11:119455958..119471236hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3810534
hg1910534
hg1810534
hg1710534
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10843
SamplesNA18956
Known Genes
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)nsv517
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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