A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20106



Internal ID15829668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:419734..428719hg38UCSC Ensembl
Outerchr12:418608..429423hg38UCSC Ensembl
Innerchr12:528900..537885hg19UCSC Ensembl
Outerchr12:527774..538589hg19UCSC Ensembl
Innerchr12:399161..408146hg18UCSC Ensembl
Outerchr12:398035..408850hg18UCSC Ensembl
Innerchr12:399161..408146hg17UCSC Ensembl
Outerchr12:398035..408850hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810816
hg1910816
hg1810816
hg1710816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8884
Supporting Variants
SamplesNA10863
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)nssv20106
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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