A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973795



Internal ID22748730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52166929..52201526hg38UCSC Ensembl
chr19:52670182..52704779hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3834598
hg1934598
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393303
Samples
Known GenesPPP2R1A, ZNF836
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973795
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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