A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26617



Internal ID15483877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43092455..43093633hg38UCSC Ensembl
Outerchr19:43091649..43095711hg38UCSC Ensembl
Innerchr19:43596607..43597785hg19UCSC Ensembl
Outerchr19:43595801..43599863hg19UCSC Ensembl
Innerchr19:48288447..48289625hg18UCSC Ensembl
Outerchr19:48287641..48291703hg18UCSC Ensembl
Innerchr19:48288447..48289625hg17UCSC Ensembl
Outerchr19:48287641..48291703hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg384063
hg194063
hg184063
hg174063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9730
Supporting Variants
SamplesNA12155
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)nssv26617
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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