A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16295148



Internal ID20504366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126074980..126074980hg38UCSC Ensembl
chr3:125793823..125793823hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4763290
Supporting Variants
Samples
Known GenesSLC41A3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16295148
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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