A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725300



Internal ID148966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50404338..50404656hg38UCSC Ensembl
chr19:50907595..50907913hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146938
Supporting Variants
Samples
Known GenesPOLD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.035603


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