A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974702



Internal ID22749637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50173095..50396313hg38UCSC Ensembl
chr22:50611524..50834742hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38223219
hg19223219
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394707
Samples
Known GenesDENND6B, HDAC10, MAPK11, MAPK12, PANX2, PLXNB2, PPP6R2, SELO, TRABD, TUBGCP6
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974702
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