A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894309



Internal ID22669381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30499698..30500772hg38UCSC Ensembl
chr4:30501320..30502394hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424957
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894309
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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