A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251042



Internal ID22055652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40013640..40013640hg38UCSC Ensembl
chr19:40519547..40519547hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849875
Samples
Known GenesZNF546
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251042
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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