A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724158



Internal ID147824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52289775..52335073hg38UCSC Ensembl
chr19:52793028..52838326hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3845299
hg1945299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520548
Supporting Variants
Samples
Known GenesZNF480, ZNF766
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724158
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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