A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523472



Internal ID299705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3595940..3596002hg38UCSC Ensembl
chr19:3595938..3596000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720599
Samples
Known GenesTBXA2R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer