A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26019



Internal ID15834463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20485195..20485840hg38UCSC Ensembl
Outerchr16:20484321..20486369hg38UCSC Ensembl
Innerchr16:20496517..20497162hg19UCSC Ensembl
Outerchr16:20495643..20497691hg19UCSC Ensembl
Innerchr16:20404018..20404663hg18UCSC Ensembl
Outerchr16:20403144..20405192hg18UCSC Ensembl
Innerchr16:20404018..20404663hg17UCSC Ensembl
Outerchr16:20403144..20405192hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382049
hg192049
hg182049
hg172049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9389
Supporting Variants
SamplesNA18517
Known GenesACSM2A
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)nssv26019
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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