A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519546



Internal ID295895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2009951..2044726hg38UCSC Ensembl
chr19:2009950..2044725hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3834776
hg1934776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720331
Samples
Known GenesBTBD2, MKNK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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