A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567930



Internal ID19951128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15051806..15928772hg38UCSC Ensembl
chr21:16424127..17301092hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38876967
hg19876966
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091277
Samples
Known GenesNRIP1, USP25
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4567930
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer