A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588814



Internal ID18540409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21803372..22013299hg38UCSC Ensembl
Innerchr22:22157661..22367697hg19UCSC Ensembl
Innerchr22:20487661..20697697hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38209928
hg19210037
hg18210037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062641
Supporting Variants
Samples
Known GenesMAPK1, PPM1F, TOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588814
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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