A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895092



Internal ID22670169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193675121..193675194hg38UCSC Ensembl
chr3:193392910..193392983hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426981
Samples
Known GenesOPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895092
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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