A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521022



Internal ID297327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12333560..12333627hg38UCSC Ensembl
chr19:12444374..12444441hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721490
Samples
Known GenesZNF563
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521022
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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