A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23305



Internal ID15493725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33095953..33282279hg38UCSC Ensembl
Outerchr16:33095486..33283946hg38UCSC Ensembl
Innerchr16:33107274..33183520hg19UCSC Ensembl
Outerchr16:33106807..33185187hg19UCSC Ensembl
Innerchr16:33014775..33091021hg18UCSC Ensembl
Outerchr16:33014308..33092688hg18UCSC Ensembl
Innerchr16:33014775..33091021hg17UCSC Ensembl
Outerchr16:33014308..33092688hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38188461
hg1978381
hg1878381
hg1778381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18980
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)nssv23305
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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