A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903278



Internal ID22678444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168253476..168255391hg38UCSC Ensembl
chr3:167971264..167973179hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381916
hg191916
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410382
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903278
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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