A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13624



Internal ID15482019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534047..69553795hg38UCSC Ensembl
Outerchr5:69533187..69554372hg38UCSC Ensembl
Innerchr5:68829874..68849622hg19UCSC Ensembl
Outerchr5:68829014..68850199hg19UCSC Ensembl
Innerchr5:68865630..68885378hg18UCSC Ensembl
Outerchr5:68864770..68885955hg18UCSC Ensembl
Innerchr5:68865630..68885378hg17UCSC Ensembl
Outerchr5:68864770..68885955hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3821186
hg1921186
hg1821186
hg1721186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10839
Known GenesLOC647859, OCLN, SMA4
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)nssv13624
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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