A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892066



Internal ID168902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167358927..167364539hg38UCSC Ensembl
chr1:167328164..167333776hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg385613
hg195613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419143
Supporting Variants
Samples
Known GenesPOU2F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892066
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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