A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896784



Internal ID172004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226008935..226014100hg38UCSC Ensembl
chr1:226196636..226201801hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg385166
hg195166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440489
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896784
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004106


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