A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17978



Internal ID15483745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12339617..12437434hg38UCSC Ensembl
Outerchr8:12333562..12437816hg38UCSC Ensembl
Innerchr8:12197126..12294943hg19UCSC Ensembl
Outerchr8:12191071..12295325hg19UCSC Ensembl
Innerchr8:12241497..12339314hg18UCSC Ensembl
Outerchr8:12235442..12339696hg18UCSC Ensembl
Innerchr8:12241497..12339314hg17UCSC Ensembl
Outerchr8:12235442..12339696hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38104255
hg19104255
hg18104255
hg17104255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA12155
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
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)nssv17978
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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