A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24462



Internal ID15482947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54842741..54845897hg38UCSC Ensembl
Outerchr19:54840471..54847356hg38UCSC Ensembl
Innerchr19:55354196..55357352hg19UCSC Ensembl
Outerchr19:55351926..55358811hg19UCSC Ensembl
Innerchr19:60046008..60049164hg18UCSC Ensembl
Outerchr19:60043738..60050623hg18UCSC Ensembl
Innerchr19:60046008..60049164hg17UCSC Ensembl
Outerchr19:60043738..60050623hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386886
hg196886
hg186886
hg176886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9764
Supporting Variants
SamplesNA10863
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)nssv24462
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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