A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891876



Internal ID22666919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54639235..54639298hg38UCSC Ensembl
chr3:54673262..54673325hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417585
Samples
Known GenesCACNA2D3, ESRG
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891876
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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