A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434364



Internal ID213042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216573124..216573275hg38UCSC Ensembl
chr2:217437847..217437998hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925905
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434364
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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