A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22181



Internal ID15832448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54224090..54238498hg38UCSC Ensembl
Outerchr19:54223078..54239339hg38UCSC Ensembl
Innerchr19:54727962..54742374hg19UCSC Ensembl
Outerchr19:54726950..54743215hg19UCSC Ensembl
Innerchr19:59419774..59434186hg18UCSC Ensembl
Outerchr19:59418762..59435027hg18UCSC Ensembl
Innerchr19:59419774..59434186hg17UCSC Ensembl
Outerchr19:59418762..59435027hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3816262
hg1916266
hg1816266
hg1716266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA12872
Known GenesLILRA6, LILRB3
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv22181
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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