A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527894



Internal ID303973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52820830..52856905hg38UCSC Ensembl
chr19:53324083..53360158hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3836076
hg1936076
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724238
Samples
Known GenesZNF28, ZNF468
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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