A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899223



Internal ID22674350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150337495..150339858hg38UCSC Ensembl
chr4:151258647..151261010hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382364
hg192364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410117
Samples
Known GenesLRBA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899223
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