A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3733121



Internal ID19031402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22450886..22913385hg38UCSC Ensembl
Innerchr22:22805224..23255556hg19UCSC Ensembl
Innerchr22:21135224..21585556hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38462500
hg19450333
hg18450333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060271
Supporting Variants
Samples
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3733121
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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