A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440193



Internal ID218709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224225413..224230678hg38UCSC Ensembl
chr2:225090130..225095395hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385266
hg195266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923989
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440193
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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