A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16001138



Internal ID20073094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118014879..118014880hg38UCSC Ensembl
chr12:118452684..118452685hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576873
Supporting Variants
Samples
Known Genes
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 ID32461652
Accession Number(s)nssv16001138
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000323


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