A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453299



Internal ID231425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160438123..160439651hg38UCSC Ensembl
chr2:161294634..161296162hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921678
Samples
Known GenesRBMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453299
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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