A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12785



Internal ID15482368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69711318..69843943hg38UCSC Ensembl
Outerchr5:69709875..69845379hg38UCSC Ensembl
Innerchr5:69007145..69139770hg19UCSC Ensembl
Outerchr5:69005702..69141206hg19UCSC Ensembl
Innerchr5:69042901..69175526hg18UCSC Ensembl
Outerchr5:69041458..69176962hg18UCSC Ensembl
Innerchr5:69042901..69175526hg17UCSC Ensembl
Outerchr5:69041458..69176962hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38135505
hg19135505
hg18135505
hg17135505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGUSBP3, 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)nssv12785
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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