A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13716



Internal ID15482972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71168832..71170868hg38UCSC Ensembl
Outerchr5:71168498..71170939hg38UCSC Ensembl
Innerchr5:70464659..70466695hg19UCSC Ensembl
Outerchr5:70464325..70466766hg19UCSC Ensembl
Innerchr5:70500415..70502451hg18UCSC Ensembl
Outerchr5:70500081..70502522hg18UCSC Ensembl
Innerchr5:70500415..70502451hg17UCSC Ensembl
Outerchr5:70500081..70502522hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382442
hg192442
hg182442
hg172442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
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)nssv13716
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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