A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23577



Internal ID15488258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33747333..33769809hg38UCSC Ensembl
Outerchr16:33745846..33770385hg38UCSC Ensembl
Innerchr16:33549800..33572276hg19UCSC Ensembl
Outerchr16:33548313..33572852hg19UCSC Ensembl
Innerchr16:33457301..33479777hg18UCSC Ensembl
Outerchr16:33455814..33480353hg18UCSC Ensembl
Innerchr16:33457301..33479777hg17UCSC Ensembl
Outerchr16:33455814..33480353hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3824540
hg1924540
hg1824540
hg1724540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA18537
Known GenesRNU6-76P
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)nssv23577
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