A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9812



Internal ID15501038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46633076..46635181hg38UCSC Ensembl
Outerchr20:45261715..45263820hg19UCSC Ensembl
Outerchr20:44695122..44697227hg18UCSC Ensembl
Outerchr20:44695122..44697227hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382106
hg192106
hg182106
hg172106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv26927
SamplesNA12155
Known GenesSLC13A3
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)nsv9812
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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