A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15561



Internal ID15838462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138472497..138478547hg38UCSC Ensembl
Outerchr5:138472023..138479722hg38UCSC Ensembl
Innerchr5:137808186..137814236hg19UCSC Ensembl
Outerchr5:137807712..137815411hg19UCSC Ensembl
Innerchr5:137836085..137842135hg18UCSC Ensembl
Outerchr5:137835611..137843310hg18UCSC Ensembl
Innerchr5:137836085..137842135hg17UCSC Ensembl
Outerchr5:137835611..137843310hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg387700
hg197700
hg187700
hg177700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10751
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)nssv15561
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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