A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20270



Internal ID15837733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8219735..8225001hg38UCSC Ensembl
Outerchr12:8218511..8225791hg38UCSC Ensembl
Innerchr12:8372331..8377597hg19UCSC Ensembl
Outerchr12:8371107..8378387hg19UCSC Ensembl
Innerchr12:8263598..8268864hg18UCSC Ensembl
Outerchr12:8262374..8269654hg18UCSC Ensembl
Innerchr12:8263598..8268864hg17UCSC Ensembl
Outerchr12:8262374..8269654hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387281
hg197281
hg187281
hg177281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8899
Supporting Variants
SamplesNA18853
Known GenesFAM90A1
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)nssv20270
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