A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20565



Internal ID15834744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:419734..422173hg38UCSC Ensembl
Outerchr12:418608..428719hg38UCSC Ensembl
Innerchr12:528900..531339hg19UCSC Ensembl
Outerchr12:527774..537885hg19UCSC Ensembl
Innerchr12:399161..401600hg18UCSC Ensembl
Outerchr12:398035..408146hg18UCSC Ensembl
Innerchr12:399161..401600hg17UCSC Ensembl
Outerchr12:398035..408146hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810112
hg1910112
hg1810112
hg1710112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8884
Supporting Variants
SamplesNA18537
Known GenesCCDC77
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)nssv20565
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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