A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13595



Internal ID15482450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80650997..80652423hg38UCSC Ensembl
Outerchr5:80649980..80653056hg38UCSC Ensembl
Innerchr5:79946816..79948242hg19UCSC Ensembl
Outerchr5:79945799..79948875hg19UCSC Ensembl
Innerchr5:79982572..79983998hg18UCSC Ensembl
Outerchr5:79981555..79984631hg18UCSC Ensembl
Innerchr5:79982572..79983998hg17UCSC Ensembl
Outerchr5:79981555..79984631hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383077
hg193077
hg183077
hg173077
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10709
Supporting Variants
SamplesNA10847
Known GenesDHFR, MTRNR2L2
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)nssv13595
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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