A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13654



Internal ID15482025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69700857..69854366hg38UCSC Ensembl
Outerchr5:69700755..69854469hg38UCSC Ensembl
Innerchr5:68996684..69150193hg19UCSC Ensembl
Outerchr5:68996582..69150296hg19UCSC Ensembl
Innerchr5:69032440..69185949hg18UCSC Ensembl
Outerchr5:69032338..69186052hg18UCSC Ensembl
Innerchr5:69032440..69185949hg17UCSC Ensembl
Outerchr5:69032338..69186052hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38153715
hg19153715
hg18153715
hg17153715
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10839
Known GenesGUSBP3, 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)nssv13654
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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