A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972434



Internal ID22747369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114916887..115445988hg38UCSC Ensembl
chr5:114252584..114781685hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38529102
hg19529102
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417436
Samples
Known GenesCCDC112, PGGT1B, TRIM36
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972434
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