A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409473



Internal ID22467343
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 StatusS
Merged Variantsnsv5961449
Supporting Variants
Samples
Known GenesBMS1P20, GGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409473
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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