A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443972



Internal ID222354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164626833..164630080hg38UCSC Ensembl
chr2:165483343..165486590hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920294
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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