A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18965



Internal ID15828954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31828513..31833807hg38UCSC Ensembl
Outerchr12:31820034..31834429hg38UCSC Ensembl
Innerchr12:31981447..31986741hg19UCSC Ensembl
Outerchr12:31972968..31987363hg19UCSC Ensembl
Innerchr12:31872714..31878008hg18UCSC Ensembl
Outerchr12:31864235..31878630hg18UCSC Ensembl
Innerchr12:31872714..31878008hg17UCSC Ensembl
Outerchr12:31864235..31878630hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3814396
hg1914396
hg1814396
hg1714396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8940
Supporting Variants
SamplesNA10847
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)nssv18965
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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