A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13936



Internal ID15835404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99529484..99536449hg38UCSC Ensembl
Outerchr5:99529261..99536667hg38UCSC Ensembl
Innerchr5:98865188..98872153hg19UCSC Ensembl
Outerchr5:98864965..98872371hg19UCSC Ensembl
Innerchr5:98893087..98900052hg18UCSC Ensembl
Outerchr5:98892864..98900270hg18UCSC Ensembl
Innerchr5:98893087..98900052hg17UCSC Ensembl
Outerchr5:98892864..98900270hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg387407
hg197407
hg187407
hg177407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10726
Supporting Variants
SamplesNA18552
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)nssv13936
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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