A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22442



Internal ID15480791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33767577..33768109hg38UCSC Ensembl
Outerchr16:33766296..33768632hg38UCSC Ensembl
Innerchr16:33570044..33570576hg19UCSC Ensembl
Outerchr16:33568763..33571099hg19UCSC Ensembl
Innerchr16:33477545..33478077hg18UCSC Ensembl
Outerchr16:33476264..33478600hg18UCSC Ensembl
Innerchr16:33477545..33478077hg17UCSC Ensembl
Outerchr16:33476264..33478600hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382337
hg192337
hg182337
hg172337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA07029
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)nssv22442
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer