A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27475



Internal ID15842037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54224090..54240290hg38UCSC Ensembl
Outerchr19:54223078..54240823hg38UCSC Ensembl
Innerchr19:54727962..54744166hg19UCSC Ensembl
Outerchr19:54726950..54744699hg19UCSC Ensembl
Innerchr19:59419774..59435978hg18UCSC Ensembl
Outerchr19:59418762..59436511hg18UCSC Ensembl
Innerchr19:59419774..59435978hg17UCSC Ensembl
Outerchr19:59418762..59436511hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817746
hg1917750
hg1817750
hg1717750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA19132
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)nssv27475
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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