A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14541



Internal ID15838575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5089489..5094899hg38UCSC Ensembl
Outerchr5:5088404..5095646hg38UCSC Ensembl
Innerchr5:5089602..5095012hg19UCSC Ensembl
Outerchr5:5088517..5095759hg19UCSC Ensembl
Innerchr5:5142602..5148012hg18UCSC Ensembl
Outerchr5:5141517..5148759hg18UCSC Ensembl
Innerchr5:5142602..5148012hg17UCSC Ensembl
Outerchr5:5141517..5148759hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg387243
hg197243
hg187243
hg177243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10660
Supporting Variants
SamplesNA18860
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)nssv14541
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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