A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22390



Internal ID15485312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54842741..54848760hg38UCSC Ensembl
Outerchr19:54840471..54849591hg38UCSC Ensembl
Innerchr19:55354196..55360215hg19UCSC Ensembl
Outerchr19:55351926..55361046hg19UCSC Ensembl
Innerchr19:60046008..60052027hg18UCSC Ensembl
Outerchr19:60043738..60052858hg18UCSC Ensembl
Innerchr19:60046008..60052027hg17UCSC Ensembl
Outerchr19:60043738..60052858hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389121
hg199121
hg189121
hg179121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9764
Supporting Variants
SamplesNA12802
Known GenesKIR2DS4
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)nssv22390
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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