A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9000



Internal ID15500226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93825917..94259381hg38UCSC Ensembl
Outerchr12:94219693..94653157hg19UCSC Ensembl
Outerchr12:92743824..93177288hg18UCSC Ensembl
Outerchr12:92722161..93155625hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38433465
hg19433465
hg18433465
hg17433465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23125
SamplesNA18504
Known GenesCRADD, PLXNC1
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)nsv9000
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