A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24013



Internal ID15829793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28799023..28799029hg38UCSC Ensembl
Outerchr16:28797629..28799725hg38UCSC Ensembl
Innerchr16:28810344..28810350hg19UCSC Ensembl
Outerchr16:28808950..28811046hg19UCSC Ensembl
Innerchr16:28717845..28717851hg18UCSC Ensembl
Outerchr16:28716451..28718547hg18UCSC Ensembl
Innerchr16:28717845..28717851hg17UCSC Ensembl
Outerchr16:28716451..28718547hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382097
hg192097
hg182097
hg172097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9420
Supporting Variants
SamplesNA11830
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)nssv24013
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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