A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448728



Internal ID226990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84223589..84240170hg38UCSC Ensembl
chr2:84450713..84467294hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3816582
hg1916582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916648
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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