A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975070



Internal ID22750005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109266835..109269437hg38UCSC Ensembl
chr9:112029115..112031717hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg382603
hg192603
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445375
Samples
Known GenesEPB41L4B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975070
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