A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445592



Internal ID223938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196558026..196563868hg38UCSC Ensembl
chr3:196284897..196290739hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385843
hg195843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944273
Samples
Known GenesWDR53
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445592
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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