A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13505



Internal ID15482288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71245683..71245763hg38UCSC Ensembl
Outerchr5:71243505..71247415hg38UCSC Ensembl
Innerchr5:70541510..70541590hg19UCSC Ensembl
Outerchr5:70539332..70543242hg19UCSC Ensembl
Innerchr5:70577266..70577346hg18UCSC Ensembl
Outerchr5:70575088..70578998hg18UCSC Ensembl
Innerchr5:70577266..70577346hg17UCSC Ensembl
Outerchr5:70575088..70578998hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383911
hg193911
hg183911
hg173911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGUSBP9
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)nssv13505
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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