A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445046



Internal ID223405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128197987..128198294hg38UCSC Ensembl
chr2:128955561..128955868hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924031
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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