A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451629



Internal ID229807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48094744..48098688hg38UCSC Ensembl
chr3:48136234..48140178hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383945
hg193945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932669
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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