A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2513



Internal ID15193925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24348722..24367934hg38UCSC Ensembl
Outerchr5:24348831..24368043hg19UCSC Ensembl
Outerchr5:24384588..24403800hg18UCSC Ensembl
Outerchr5:24384588..24403800hg17UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3819213
hg1919213
hg1819213
hg1719213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4764
Supporting Variants
SamplesNA18555
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)nssv2513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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