A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3733120



Internal ID19031401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22439745..22913385hg38UCSC Ensembl
Innerchr22:22794082..23255556hg19UCSC Ensembl
Innerchr22:21124082..21585556hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38473641
hg19461475
hg18461475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061864
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)nssv3733120
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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