A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12946



Internal ID15835530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17631177..17634367hg38UCSC Ensembl
Outerchr5:17630666..17634834hg38UCSC Ensembl
Innerchr5:17631286..17634476hg19UCSC Ensembl
Outerchr5:17630775..17634943hg19UCSC Ensembl
Innerchr5:17663984..17667174hg18UCSC Ensembl
Outerchr5:17663473..17667641hg18UCSC Ensembl
Innerchr5:17663984..17667174hg17UCSC Ensembl
Outerchr5:17663473..17667641hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg384169
hg194169
hg184169
hg174169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
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)nssv12946
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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