A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439054



Internal ID217601
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 StatusM
Merged Variants
Supporting Variantsnssv16923445
Samples
Known GenesORMDL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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