A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19273



Internal ID15486813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12170071..12177349hg38UCSC Ensembl
Outerchr8:12169745..12177705hg38UCSC Ensembl
Innerchr8:12027580..12034858hg19UCSC Ensembl
Outerchr8:12027254..12035214hg19UCSC Ensembl
Innerchr8:12064989..12072267hg18UCSC Ensembl
Outerchr8:12064663..12072623hg18UCSC Ensembl
Innerchr8:12064989..12072267hg17UCSC Ensembl
Outerchr8:12064663..12072623hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387961
hg197961
hg187961
hg177961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18504
Known GenesFAM90A2P
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)nssv19273
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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