A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889348



Internal ID22664365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183495794..183496920hg38UCSC Ensembl
chr4:184416947..184418073hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381127
hg191127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421131
Samples
Known GenesLOC389247
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889348
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