A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923445



Internal ID16401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189771902..189775564hg38UCSC Ensembl
chr2:190636628..190640290hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383663
hg193663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439054
Supporting Variants
Samples
Known GenesORMDL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923445
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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