A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450139



Internal ID228356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5522146..5523492hg38UCSC Ensembl
chr2:5662278..5663624hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908995
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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