A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953462



Internal ID22728741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22322966..22893779hg38UCSC Ensembl
chr22:22677322..23235959hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38570814
hg19558638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1383n209
Supporting Variantsnssv17390302
Samples
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953462
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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