A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729875



Internal ID153541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49784334..49784392hg38UCSC Ensembl
chr22:50177982..50178040hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553780
Supporting Variants
Samples
Known GenesBRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729875
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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