A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8194



Internal ID15535670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173642876..173658282hg38UCSC Ensembl
Outerchr5:173069879..173085285hg19UCSC Ensembl
Outerchr5:173002485..173017891hg18UCSC Ensembl
Outerchr5:173002485..173017891hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3815407
hg1915407
hg1815407
hg1715407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5134
Supporting Variants
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)nssv8194
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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