A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv494



Internal ID15203013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:112261422..112300961hg38UCSC Ensembl
Outerchr11:112132145..112171684hg19UCSC Ensembl
Outerchr11:111637355..111676894hg18UCSC Ensembl
Outerchr11:111637355..111676894hg17UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3839540
hg1939540
hg1839540
hg1739540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8964
SamplesNA12156
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)nsv494
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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