A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443651



Internal ID222044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47202703..47245639hg38UCSC Ensembl
chr2:47429842..47472778hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3842937
hg1942937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912016
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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