A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17433115



Internal ID22490985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116668703..116670506hg38UCSC Ensembl
chr8:117680942..117682745hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381804
hg191804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920928
Supporting Variants
Samples
Known GenesEIF3H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17433115
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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