A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547800



Internal ID321608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14055291..14055306hg38UCSC Ensembl
chr19:14166103..14166118hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721651
Samples
Known GenesPALM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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