A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10454



Internal ID15542344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58380371..58393367hg38UCSC Ensembl
Outerchr5:57676198..57689194hg19UCSC Ensembl
Outerchr5:57711955..57724951hg18UCSC Ensembl
Outerchr5:57711955..57724951hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3812997
hg1912997
hg1812997
hg1712997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4842
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)nssv10454
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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