A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547



Internal ID15550282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:129511799..129556585hg38UCSC Ensembl
Outerchr11:129381694..129426480hg19UCSC Ensembl
Outerchr11:128886904..128931690hg18UCSC Ensembl
Outerchr11:128886904..128931690hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3844787
hg1944787
hg1844787
hg1744787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8979
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)nsv547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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