A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19072



Internal ID15492139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18406824..18407388hg38UCSC Ensembl
Outerchr12:18391169..18411018hg38UCSC Ensembl
Innerchr12:18559758..18560322hg19UCSC Ensembl
Outerchr12:18544103..18563952hg19UCSC Ensembl
Innerchr12:18451025..18451589hg18UCSC Ensembl
Outerchr12:18435370..18455219hg18UCSC Ensembl
Innerchr12:18451025..18451589hg17UCSC Ensembl
Outerchr12:18435370..18455219hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3819850
hg1919850
hg1819850
hg1719850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8926
Supporting Variants
SamplesNA18942
Known GenesPIK3C2G
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)nssv19072
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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