A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977361



Internal ID22752296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5132403..5833612hg38UCSC Ensembl
chr7:5172034..5873243hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38701210
hg19701210
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442684
Samples
Known GenesACTB, FBXL18, FSCN1, MIR589, MIR6874, RNF216, RNF216-IT1, SLC29A4, TNRC18, WIPI2, ZNF815P, ZNF890P
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977361
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