A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442715



Internal ID221135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21339327..21342809hg38UCSC Ensembl
chr2:21562199..21565681hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383483
hg193483
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910513
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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