A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888248



Internal ID22663251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187500373..187500627hg38UCSC Ensembl
chr3:187218161..187218415hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425339
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888248
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