A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893890



Internal ID22668957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168515156..168516046hg38UCSC Ensembl
chr3:168232944..168233834hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38891
hg19891
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411004
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893890
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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