A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391240



Internal ID22449110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151876665..151876788hg38UCSC Ensembl
chr2:152733179..152733302hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906868
Supporting Variants
Samples
Known GenesCACNB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391240
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.09


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