A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21368



Internal ID15830541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9223971..9226905hg38UCSC Ensembl
Outerchr12:9223092..9228677hg38UCSC Ensembl
Innerchr12:9376567..9379501hg19UCSC Ensembl
Outerchr12:9375688..9381273hg19UCSC Ensembl
Innerchr12:9267834..9270768hg18UCSC Ensembl
Outerchr12:9266955..9272540hg18UCSC Ensembl
Innerchr12:9267834..9270768hg17UCSC Ensembl
Outerchr12:9266955..9272540hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385586
hg195586
hg185586
hg175586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8903
Supporting Variants
SamplesNA12155
Known GenesA2MP1
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)nssv21368
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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