A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899449



Internal ID22674579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:189964159..189969738hg38UCSC Ensembl
chr3:189681948..189687527hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg385580
hg195580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425890
Samples
Known GenesLEPREL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899449
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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