A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12665



Internal ID15482487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534193..69557659hg38UCSC Ensembl
Outerchr5:69534047..69558067hg38UCSC Ensembl
Innerchr5:68830020..68853486hg19UCSC Ensembl
Outerchr5:68829874..68853894hg19UCSC Ensembl
Innerchr5:68865776..68889242hg18UCSC Ensembl
Outerchr5:68865630..68889650hg18UCSC Ensembl
Innerchr5:68865776..68889242hg17UCSC Ensembl
Outerchr5:68865630..68889650hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3824021
hg1924021
hg1824021
hg1724021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
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)nssv12665
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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