A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv542



Internal ID15550227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128435058..128447291hg38UCSC Ensembl
Outerchr11:128304953..128317186hg19UCSC Ensembl
Outerchr11:127810163..127822396hg18UCSC Ensembl
Outerchr11:127810163..127822396hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3812234
hg1912234
hg1812234
hg1712234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5385
SamplesNA19129
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)nsv542
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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