A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441598



Internal ID22499468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116707786..116714155hg38UCSC Ensembl
chr8:117720025..117726394hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg386370
hg196370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918913
Supporting Variants
Samples
Known GenesEIF3H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441598
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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