A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938178



Internal ID26183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125198327..125202965hg38UCSC Ensembl
chr3:124917171..124921809hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg384639
hg194639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445378
Supporting Variants
Samples
Known GenesSLC12A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938178
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001093


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