A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15237



Internal ID15495048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71240738..71242488hg38UCSC Ensembl
Outerchr5:71240470..71243138hg38UCSC Ensembl
Innerchr5:70536565..70538315hg19UCSC Ensembl
Outerchr5:70536297..70538965hg19UCSC Ensembl
Innerchr5:70572321..70574071hg18UCSC Ensembl
Outerchr5:70572053..70574721hg18UCSC Ensembl
Innerchr5:70572321..70574071hg17UCSC Ensembl
Outerchr5:70572053..70574721hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382669
hg192669
hg182669
hg172669
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19132
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)nssv15237
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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