A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23420



Internal ID15494439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29455909..29456899hg38UCSC Ensembl
Outerchr16:29455200..29457321hg38UCSC Ensembl
Innerchr16:29467230..29468220hg19UCSC Ensembl
Outerchr16:29466521..29468642hg19UCSC Ensembl
Innerchr16:29374731..29375721hg18UCSC Ensembl
Outerchr16:29374022..29376143hg18UCSC Ensembl
Innerchr16:29374731..29375721hg17UCSC Ensembl
Outerchr16:29374022..29376143hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382122
hg192122
hg182122
hg172122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9426
Supporting Variants
SamplesNA19007
Known GenesSLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4
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)nssv23420
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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