A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441742



Internal ID220196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51547255..51552592hg38UCSC Ensembl
chr3:51581271..51586608hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg385338
hg195338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932711
Samples
Known GenesRAD54L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441742
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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