A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445378



Internal ID223727
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 StatusM
Merged Variants
Supporting Variantsnssv16938178
Samples
Known GenesSLC12A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445378
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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