A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586529



Internal ID18538124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23831207..23915592hg38UCSC Ensembl
Innerchr22:24173394..24257779hg19UCSC Ensembl
Innerchr22:22503394..22587779hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3884386
hg1984386
hg1884386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064136
Supporting Variants
Samples
Known GenesDERL3, LOC284889, MIF, SLC2A11, SMARCB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586529
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