A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437350



Internal ID215941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48248258..48253360hg38UCSC Ensembl
chr3:48289748..48294850hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385103
hg195103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932692
Samples
Known GenesZNF589
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437350
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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