A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062343



Internal ID19151562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22326560..22881053hg38UCSC Ensembl
Innerchr22:22680918..23223233hg19UCSC Ensembl
Innerchr22:21010918..21553233hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38554494
hg19542316
hg18542316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4505n100
Supporting Variantsnssv3733083
Samples
Known GenesGGTLC2, 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)nsv1062343
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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