A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950080



Internal ID34074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54203775..54205953hg38UCSC Ensembl
chr4:55069942..55072120hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382179
hg192179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464165
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950080
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005308


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