A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961449



Internal ID22736398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22319217..22893785hg38UCSC Ensembl
chr22:22673572..23235965hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38574569
hg19562394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1383n209
Supporting Variantsnssv17409473
Samples
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961449
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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