A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442854



Internal ID221267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194474932..194568596hg38UCSC Ensembl
chr2:195339656..195433320hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3893665
hg1993665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927710
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442854
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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