A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442048



Internal ID220492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150038559..150038647hg38UCSC Ensembl
chr3:149756346..149756434hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940877
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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