A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26927



Internal ID15484065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46633526..46634203hg38UCSC Ensembl
Outerchr20:46633076..46635181hg38UCSC Ensembl
Innerchr20:45262165..45262842hg19UCSC Ensembl
Outerchr20:45261715..45263820hg19UCSC Ensembl
Innerchr20:44695572..44696249hg18UCSC Ensembl
Outerchr20:44695122..44697227hg18UCSC Ensembl
Innerchr20:44695572..44696249hg17UCSC 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 StatusS
Merged Variantsnsv9812
Supporting Variants
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)nssv26927
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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