A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16895271



Internal ID171025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206008547..206025186hg38UCSC Ensembl
chr1:206316182..206332221hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3816640
hg1916040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437770
Supporting Variants
Samples
Known GenesCTSE
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16895271
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00203


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