A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587363



Internal ID18538958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20114567..20280182hg38UCSC Ensembl
Innerchr22:20102090..20267705hg19UCSC Ensembl
Innerchr22:18482090..18647705hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38165616
hg19165616
hg18165616
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067299
Supporting Variants
Samples
Known GenesLINC00896, LOC284865, LOC388849, MIR1286, MIR6816, RANBP1, RTN4R, TRMT2A, ZDHHC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587363
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