A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914



Internal ID15833950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166411950..166413158hg38UCSC Ensembl
Outerchr5:166411509..166501283hg38UCSC Ensembl
Innerchr5:165838955..165840163hg19UCSC Ensembl
Outerchr5:165838514..165928288hg19UCSC Ensembl
Innerchr5:165771533..165772741hg18UCSC Ensembl
Outerchr5:165771092..165860866hg18UCSC Ensembl
Innerchr5:165771533..165772741hg17UCSC Ensembl
Outerchr5:165771092..165860866hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3889775
hg1989775
hg1889775
hg1789775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10769
Supporting Variants
SamplesNA18517
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)nssv15914
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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