A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955754



Internal ID37805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129657075..129657130hg38UCSC Ensembl
chr4:130578230..130578285hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456604
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955754
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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