A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12160



Internal ID15831594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8702943..8748547hg38UCSC Ensembl
Outerchr5:8700716..8749312hg38UCSC Ensembl
Innerchr5:8703055..8748659hg19UCSC Ensembl
Outerchr5:8700828..8749424hg19UCSC Ensembl
Innerchr5:8756055..8801659hg18UCSC Ensembl
Outerchr5:8753828..8802424hg18UCSC Ensembl
Innerchr5:8756055..8801659hg17UCSC Ensembl
Outerchr5:8753828..8802424hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3848597
hg1948597
hg1848597
hg1748597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10663
Supporting Variants
SamplesNA12802
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)nssv12160
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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