A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896126



Internal ID171567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213266696..213268367hg38UCSC Ensembl
chr1:213440039..213441710hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381672
hg191672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437247
Supporting Variants
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896126
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001873


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