A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725190



Internal ID148856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43645452..43646983hg38UCSC Ensembl
chr19:44149604..44151135hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381532
hg191532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524692
Supporting Variants
Samples
Known GenesPLAUR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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