A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16222



Internal ID15492096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12404497..12420026hg38UCSC Ensembl
Outerchr8:12404175..12420573hg38UCSC Ensembl
Innerchr8:12262006..12277535hg19UCSC Ensembl
Outerchr8:12261684..12278082hg19UCSC Ensembl
Innerchr8:12306377..12321906hg18UCSC Ensembl
Outerchr8:12306055..12322453hg18UCSC Ensembl
Innerchr8:12306377..12321906hg17UCSC Ensembl
Outerchr8:12306055..12322453hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3816399
hg1916399
hg1816399
hg1716399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18942
Known GenesFAM66A, FAM90A25P
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)nssv16222
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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