A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448250



Internal ID226531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164367882..164377076hg38UCSC Ensembl
chr2:165224392..165233586hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg389195
hg199195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921456
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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