A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17854344



Internal ID22037987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89295587..89295587hg38UCSC Ensembl
chr3:89344737..89344737hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6254325
Supporting Variants
Samples
Known GenesEPHA3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17854344
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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