A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788967



Internal ID19861015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157362432..157507600hg38UCSC Ensembl
chr1:157332222..157477390hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38145169
hg19145169
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4559517
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15788967
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000553


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