A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788511



Internal ID19860552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34854677..34855873hg38UCSC Ensembl
chr17:33181696..33182892hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381197
hg191197
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4565280
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)nssv15788511
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001106


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