A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13175



Internal ID15482175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70553396..70554363hg38UCSC Ensembl
Outerchr5:70552920..70554782hg38UCSC Ensembl
Innerchr5:69849223..69850190hg19UCSC Ensembl
Outerchr5:69848747..69850609hg19UCSC Ensembl
Innerchr5:69884979..69885946hg18UCSC Ensembl
Outerchr5:69884503..69886365hg18UCSC Ensembl
Innerchr5:69884979..69885946hg17UCSC Ensembl
Outerchr5:69884503..69886365hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381863
hg191863
hg181863
hg171863
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGUSBP9, SMA4, SMA5
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)nssv13175
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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