A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15057



Internal ID15494946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70536780..70538494hg38UCSC Ensembl
Outerchr5:70536512..70539176hg38UCSC Ensembl
Innerchr5:69832607..69834321hg19UCSC Ensembl
Outerchr5:69832339..69835003hg19UCSC Ensembl
Innerchr5:69868363..69870077hg18UCSC Ensembl
Outerchr5:69868095..69870759hg18UCSC Ensembl
Innerchr5:69868363..69870077hg17UCSC Ensembl
Outerchr5:69868095..69870759hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382665
hg192665
hg182665
hg172665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
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)nssv15057
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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