A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv541



Internal ID15550216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:128383162..128428186hg38UCSC Ensembl
Outerchr11:128253057..128298081hg19UCSC Ensembl
Outerchr11:127758267..127803291hg18UCSC Ensembl
Outerchr11:127758267..127803291hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3845025
hg1945025
hg1845025
hg1745025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8977
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)nsv541
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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