A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974232



Internal ID22749167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89416055..90249673hg38UCSC Ensembl
chr1:89881614..90715231hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38833619
hg19833618
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394155
Samples
Known GenesFLJ27354, GBP1P1, GEMIN8P4, LRRC8B, LRRC8C, LRRC8D, ZNF326
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974232
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