A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27972



Internal ID15496970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32562515..32640569hg38UCSC Ensembl
Outerchr16:32481626..32643025hg38UCSC Ensembl
Innerchr16:32573836..32651890hg19UCSC Ensembl
Outerchr16:32492947..32654346hg19UCSC Ensembl
Innerchr16:32481337..32559391hg18UCSC Ensembl
Outerchr16:32400448..32561847hg18UCSC Ensembl
Innerchr16:32481337..32559391hg17UCSC Ensembl
Outerchr16:32400448..32561847hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38161400
hg19161400
hg18161400
hg17161400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19221
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)nssv27972
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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