A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971884



Internal ID22746819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43593625..43594214hg38UCSC Ensembl
chr1:44059296..44059885hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372168
Samples
Known GenesPTPRF
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971884
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