A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453762



Internal ID18273250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54163847..54268428hg38UCSC Ensembl
Innerchr19:54667579..54772282hg19UCSC Ensembl
Innerchr19:59359391..59464094hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38104582
hg19104704
hg18104704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428371
Supporting Variants
SamplesHGDP00462
Known GenesLILRA6, LILRB3, LILRB5, MBOAT7, RPS9, TMC4, TSEN34
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv453762
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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