A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448978



Internal ID227228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183881342..183890805hg38UCSC Ensembl
chr3:183599130..183608593hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg389464
hg199464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943020
Samples
Known GenesPARL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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