A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19197



Internal ID15494877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12128354..12140681hg38UCSC Ensembl
Outerchr8:12128079..12141060hg38UCSC Ensembl
Innerchr8:11985863..11998190hg19UCSC Ensembl
Outerchr8:11985588..11998569hg19UCSC Ensembl
Innerchr8:12023272..12035599hg18UCSC Ensembl
Outerchr8:12022997..12035978hg18UCSC Ensembl
Innerchr8:12023272..12035599hg17UCSC Ensembl
Outerchr8:12022997..12035978hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812982
hg1912982
hg1812982
hg1712982
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA19132
Known GenesFAM66D, LOC392196, USP17L2, USP17L7
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)nssv19197
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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