A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449943



Internal ID228163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:64547483..64549937hg38UCSC Ensembl
chr3:64533159..64535613hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933925
Samples
Known GenesADAMTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449943
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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