A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447680



Internal ID225976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49472605..49473262hg38UCSC Ensembl
chr3:49510038..49510695hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38658
hg19658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933355
Samples
Known GenesDAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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