A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20789



Internal ID15843386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6509862..6515041hg38UCSC Ensembl
Outerchr12:6503185..6515717hg38UCSC Ensembl
Innerchr12:6619028..6624207hg19UCSC Ensembl
Outerchr12:6612351..6624883hg19UCSC Ensembl
Innerchr12:6489289..6494468hg18UCSC Ensembl
Outerchr12:6482612..6495144hg18UCSC Ensembl
Innerchr12:6489289..6494468hg17UCSC Ensembl
Outerchr12:6482612..6495144hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3812533
hg1912533
hg1812533
hg1712533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8895
Supporting Variants
SamplesNA19173
Known GenesNCAPD2, SCARNA10
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)nssv20789
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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