A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5055



Internal ID15549826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147433109..147477861hg38UCSC Ensembl
Outerchr5:146812672..146857424hg19UCSC Ensembl
Outerchr5:146792865..146837617hg18UCSC Ensembl
Outerchr5:146792865..146837617hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3844753
hg1944753
hg1844753
hg1744753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8164
SamplesNA12156
Known GenesDPYSL3
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)nsv5055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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