A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992075



Internal ID21901418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149079463..149079516hg38UCSC Ensembl
chr3:148797250..148797303hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17540241
Samples
Known GenesHLTF
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992075
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