A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10469



Internal ID15542329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:114983083..115023601hg38UCSC Ensembl
Outerchr5:114318780..114359298hg19UCSC Ensembl
Outerchr5:114346679..114387197hg18UCSC Ensembl
Outerchr5:114346679..114387197hg17UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3840519
hg1940519
hg1840519
hg1740519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4964
Supporting Variants
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)nssv10469
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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