A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20686



Internal ID15488796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70480365..70482643hg38UCSC Ensembl
Outerchr12:70458602..70483995hg38UCSC Ensembl
Innerchr12:70874145..70876423hg19UCSC Ensembl
Outerchr12:70852382..70877775hg19UCSC Ensembl
Innerchr12:69160412..69162690hg18UCSC Ensembl
Outerchr12:69138649..69164042hg18UCSC Ensembl
Innerchr12:69160412..69162690hg17UCSC Ensembl
Outerchr12:69138649..69164042hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3825394
hg1925394
hg1825394
hg1725394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8986
Supporting Variants
SamplesNA18552
Known Genes
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)nssv20686
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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