A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2542



Internal ID15200419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54050737..54097924hg38UCSC Ensembl
Outerchr19:54553991..54601207hg19UCSC Ensembl
Outerchr19:59245803..59293019hg18UCSC Ensembl
Outerchr19:59245803..59293019hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3847188
hg1947217
hg1847217
hg1747217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11002
SamplesNA15510
Known GenesOSCAR, TARM1, VSTM1
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)nsv2542
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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