A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24488



Internal ID15482921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54964941..54969099hg38UCSC Ensembl
Outerchr19:54962227..54971761hg38UCSC Ensembl
Innerchr19:55476309..55480467hg19UCSC Ensembl
Outerchr19:55473595..55483129hg19UCSC Ensembl
Innerchr19:60168121..60172279hg18UCSC Ensembl
Outerchr19:60165407..60174941hg18UCSC Ensembl
Innerchr19:60168121..60172279hg17UCSC Ensembl
Outerchr19:60165407..60174941hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389535
hg199535
hg189535
hg179535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9767
Supporting Variants
SamplesNA10863
Known GenesNLRP2
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)nssv24488
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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