A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977858



Internal ID20049798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181011849..181102000hg38UCSC Ensembl
chr5:180438849..180529000hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3890152
hg1990152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522579
Supporting Variants
Samples
Known GenesBTNL9, MIR8089
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)nssv15977858
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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