A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421496



Internal ID200565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168633042..168635161hg38UCSC Ensembl
chr1:168602280..168604399hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382120
hg192120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891838
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421496
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