A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451353



Internal ID229536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213139102..213146877hg38UCSC Ensembl
chr1:213312445..213320220hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387776
hg197776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897015
Samples
Known GenesRPS6KC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451353
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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