A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22988



Internal ID15490093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31982120..31982445hg38UCSC Ensembl
Outerchr16:31981678..31983121hg38UCSC Ensembl
Innerchr16:31993441..31993766hg19UCSC Ensembl
Outerchr16:31992999..31994442hg19UCSC Ensembl
Innerchr16:31900942..31901267hg18UCSC Ensembl
Outerchr16:31900500..31901943hg18UCSC Ensembl
Innerchr16:31900942..31901267hg17UCSC Ensembl
Outerchr16:31900500..31901943hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381444
hg191444
hg181444
hg171444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18564
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)nssv22988
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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