A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449951



Internal ID228171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241526054..241534266hg38UCSC Ensembl
chr2:242465469..242473681hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg388213
hg198213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928800
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449951
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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