A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438114



Internal ID216685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72024000..72030000hg38UCSC Ensembl
chr3:72073151..72079151hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934215
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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