A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16145



Internal ID15482541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12339617..12420026hg38UCSC Ensembl
Outerchr8:12333562..12420573hg38UCSC Ensembl
Innerchr8:12197126..12277535hg19UCSC Ensembl
Outerchr8:12191071..12278082hg19UCSC Ensembl
Innerchr8:12241497..12321906hg18UCSC Ensembl
Outerchr8:12235442..12322453hg18UCSC Ensembl
Innerchr8:12241497..12321906hg17UCSC Ensembl
Outerchr8:12235442..12322453hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3887012
hg1987012
hg1887012
hg1787012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA10847
Known GenesDEFB109P1, FAM66A, FAM90A25P, 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)nssv16145
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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