A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14011



Internal ID15844635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:26471698..26593860hg38UCSC Ensembl
Outerchr5:26368705..26733932hg38UCSC Ensembl
Innerchr5:26471807..26593969hg19UCSC Ensembl
Outerchr5:26368814..26734041hg19UCSC Ensembl
Innerchr5:26507564..26629726hg18UCSC Ensembl
Outerchr5:26404571..26769798hg18UCSC Ensembl
Innerchr5:26507564..26629726hg17UCSC Ensembl
Outerchr5:26404571..26769798hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg38365228
hg19365228
hg18365228
hg17365228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10688
Supporting Variants
SamplesNA19240
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)nssv14011
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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