A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24321



Internal ID15840325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40855235..40869187hg38UCSC Ensembl
Outerchr19:40854544..40874766hg38UCSC Ensembl
Innerchr19:41361140..41375092hg19UCSC Ensembl
Outerchr19:41360449..41380671hg19UCSC Ensembl
Innerchr19:46052980..46066932hg18UCSC Ensembl
Outerchr19:46052289..46072511hg18UCSC Ensembl
Innerchr19:46052980..46066932hg17UCSC Ensembl
Outerchr19:46052289..46072511hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3820223
hg1920223
hg1820223
hg1720223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9729
Supporting Variants
SamplesNA18975
Known Genes
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)nssv24321
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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