A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18852



Internal ID15485901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12339897..12608918hg38UCSC Ensembl
Outerchr8:12339617..12610003hg38UCSC Ensembl
Innerchr8:12197406..12466427hg19UCSC Ensembl
Outerchr8:12197126..12467512hg19UCSC Ensembl
Innerchr8:12241777..12510798hg18UCSC Ensembl
Outerchr8:12241497..12511883hg18UCSC Ensembl
Innerchr8:12241777..12510798hg17UCSC Ensembl
Outerchr8:12241497..12511883hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38270387
hg19270387
hg18270387
hg17270387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18502
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
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)nssv18852
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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