A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13117



Internal ID15483295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69534047..69554909hg38UCSC Ensembl
Outerchr5:69533187..69555597hg38UCSC Ensembl
Innerchr5:68829874..68850736hg19UCSC Ensembl
Outerchr5:68829014..68851424hg19UCSC Ensembl
Innerchr5:68865630..68886492hg18UCSC Ensembl
Outerchr5:68864770..68887180hg18UCSC Ensembl
Innerchr5:68865630..68886492hg17UCSC Ensembl
Outerchr5:68864770..68887180hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3822411
hg1922411
hg1822411
hg1722411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA11830
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)nssv13117
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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