A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453004



Internal ID231144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50959776..50996385hg38UCSC Ensembl
chr3:50997207..51033816hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3836610
hg1936610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933458
Samples
Known GenesDOCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453004
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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