A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13773



Internal ID15481425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70251909..70255209hg38UCSC Ensembl
Outerchr5:70251032..70255329hg38UCSC Ensembl
Innerchr5:69547736..69551036hg19UCSC Ensembl
Outerchr5:69546859..69551156hg19UCSC Ensembl
Innerchr5:69583492..69586792hg18UCSC Ensembl
Outerchr5:69582615..69586912hg18UCSC Ensembl
Innerchr5:69583492..69586792hg17UCSC Ensembl
Outerchr5:69582615..69586912hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg384298
hg194298
hg184298
hg174298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA07048
Known GenesGUSBP9, 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)nssv13773
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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