A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9904



Internal ID15501130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:37745564..37748013hg38UCSC Ensembl
Outerchr22:38141571..38144020hg19UCSC Ensembl
Outerchr22:36471517..36473966hg18UCSC Ensembl
Outerchr22:36466071..36468520hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382450
hg192450
hg182450
hg172450
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22981, nssv26289, nssv27912
SamplesNA11830, NA12872, NA18972
Known GenesTRIOBP
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)nsv9904
Frequency
Sample Size31
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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