A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13142



Internal ID15480997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69531811..69558196hg38UCSC Ensembl
Outerchr5:69531125..69558719hg38UCSC Ensembl
Innerchr5:68827638..68854023hg19UCSC Ensembl
Outerchr5:68826952..68854546hg19UCSC Ensembl
Innerchr5:68863394..68889779hg18UCSC Ensembl
Outerchr5:68862708..68890302hg18UCSC Ensembl
Innerchr5:68863394..68889779hg17UCSC Ensembl
Outerchr5:68862708..68890302hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3827595
hg1927595
hg1827595
hg1727595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07029
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)nssv13142
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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