A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417072



Internal ID22474942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168412000..168412081hg38UCSC Ensembl
chr3:168129788..168129869hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894494
Supporting Variants
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417072
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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