A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17424108



Internal ID22481978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4824965..4928890hg38UCSC Ensembl
chr3:4866649..4970575hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38103926
hg19103927
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905942
Supporting Variants
Samples
Known GenesBHLHE40-AS1, ITPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17424108
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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