A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440521



Internal ID219023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57004850..57240285hg38UCSC Ensembl
chr2:57231985..57467420hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38235436
hg19235436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913159
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440521
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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