A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13386



Internal ID15482795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70251909..70412378hg38UCSC Ensembl
Outerchr5:70251032..70412598hg38UCSC Ensembl
Innerchr5:69547736..69708205hg19UCSC Ensembl
Outerchr5:69546859..69708425hg19UCSC Ensembl
Innerchr5:69583492..69743961hg18UCSC Ensembl
Outerchr5:69582615..69744181hg18UCSC Ensembl
Innerchr5:69583492..69743961hg17UCSC Ensembl
Outerchr5:69582615..69744181hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38161567
hg19161567
hg18161567
hg17161567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
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)nssv13386
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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