A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444184



Internal ID222564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183990802..183990854hg38UCSC Ensembl
chr3:183708590..183708642hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943039
Samples
Known GenesABCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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