A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975068



Internal ID22750003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24966165..25349536hg38UCSC Ensembl
chr13:25540303..25923674hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38383372
hg19383372
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv521n209
Supporting Variantsnssv17387817
Samples
Known GenesAMER2, MTMR6, NUPL1, PABPC3, TPTE2P1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975068
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