A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450757



Internal ID228955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122011304..122012534hg38UCSC Ensembl
chr3:121730151..121731381hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381231
hg191231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939465
Samples
Known GenesILDR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450757
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