A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791603



Internal ID19863682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77455909..77462093hg38UCSC Ensembl
chr9:80070825..80077009hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg386185
hg196185
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569537
Supporting Variants
Samples
Known GenesGNA14
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)nssv15791603
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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