A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27992



Internal ID15496990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32855995..32982065hg38UCSC Ensembl
Outerchr16:32855764..32983209hg38UCSC Ensembl
Innerchr16:32867316..32993386hg19UCSC Ensembl
Outerchr16:32867085..32994530hg19UCSC Ensembl
Innerchr16:32774817..32900887hg18UCSC Ensembl
Outerchr16:32774586..32902031hg18UCSC Ensembl
Innerchr16:32774817..32900887hg17UCSC Ensembl
Outerchr16:32774586..32902031hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38127446
hg19127446
hg18127446
hg17127446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA19221
Known GenesSLC6A10P
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)nssv27992
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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