A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061864



Internal ID19151083
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 StatusM
Merged Variantsdgv4511n100
Supporting Variantsnssv3733120
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)nsv1061864
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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