A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27913



Internal ID15496911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31975681..32067981hg38UCSC Ensembl
Outerchr16:31974834..32068828hg38UCSC Ensembl
Innerchr16:31987002..32079302hg19UCSC Ensembl
Outerchr16:31986155..32080149hg19UCSC Ensembl
Innerchr16:31894503..31986803hg18UCSC Ensembl
Outerchr16:31893656..31987650hg18UCSC Ensembl
Innerchr16:31894503..31986803hg17UCSC Ensembl
Outerchr16:31893656..31987650hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3893995
hg1993995
hg1893995
hg1793995
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)nssv27913
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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