A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16287214



Internal ID20496432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168385493..168385788hg38UCSC Ensembl
chr3:168103281..168103576hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4734771
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16287214
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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