A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451141



Internal ID229327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:215890541..215895704hg38UCSC Ensembl
chr2:216755264..216760427hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385164
hg195164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924589
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451141
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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