A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992475



Internal ID21901818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194493432..194493985hg38UCSC Ensembl
chr3:194214161..194214714hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38554
hg19554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17557119
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992475
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer