A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15831685



Internal ID19557085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5476155..5477552hg38UCSC Ensembl
chr17:5379475..5380872hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4237568
Supporting Variants
Samples
Known GenesDERL2
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 ID12345678
Accession Number(s)nssv15831685
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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