A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25939



Internal ID15843093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54220088..54224111hg38UCSC Ensembl
Outerchr19:54218894..54224805hg38UCSC Ensembl
Innerchr19:54723958..54727983hg19UCSC Ensembl
Outerchr19:54722763..54728677hg19UCSC Ensembl
Innerchr19:59415770..59419795hg18UCSC Ensembl
Outerchr19:59414575..59420489hg18UCSC Ensembl
Innerchr19:59415770..59419795hg17UCSC Ensembl
Outerchr19:59414575..59420489hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385912
hg195915
hg185915
hg175915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9752
Supporting Variants
SamplesNA19173
Known GenesLILRB3
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)nssv25939
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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