A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22450



Internal ID15485314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54856001..54865743hg38UCSC Ensembl
Outerchr19:54855415..54866458hg38UCSC Ensembl
Innerchr19:55367456..55377198hg19UCSC Ensembl
Outerchr19:55366870..55377913hg19UCSC Ensembl
Innerchr19:60059268..60069010hg18UCSC Ensembl
Outerchr19:60058682..60069725hg18UCSC Ensembl
Innerchr19:60059268..60069010hg17UCSC Ensembl
Outerchr19:60058682..60069725hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3811044
hg1911044
hg1811044
hg1711044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9765
Supporting Variants
SamplesNA12802
Known GenesKIR3DL2
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)nssv22450
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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