A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063502



Internal ID18806033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21943344..22219039hg38UCSC Ensembl
Innerchr22:22297716..22573431hg19UCSC Ensembl
Innerchr22:20627716..20903431hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38275696
hg19275716
hg18275716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4494n100
Supporting Variantsnssv3588834
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063502
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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