A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727815



Internal ID151481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21764242..21769193hg38UCSC Ensembl
chr22:22118531..22123482hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg384952
hg194952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553737
Supporting Variants
Samples
Known GenesMAPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727815
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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