A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20255



Internal ID15482530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21550668..21574689hg38UCSC Ensembl
Outerchr16:21550195..21582279hg38UCSC Ensembl
Innerchr16:21561989..21586010hg19UCSC Ensembl
Outerchr16:21561516..21593600hg19UCSC Ensembl
Innerchr16:21469490..21493511hg18UCSC Ensembl
Outerchr16:21469017..21501101hg18UCSC Ensembl
Innerchr16:21469490..21493511hg17UCSC Ensembl
Outerchr16:21469017..21501101hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3832085
hg1932085
hg1832085
hg1732085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9397
Supporting Variants
SamplesNA10847
Known Genes
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)nssv20255
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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