A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907397



Internal ID19979337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172893884..172893938hg38UCSC Ensembl
chr5:172320887..172320941hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522377
Supporting Variants
Samples
Known GenesERGIC1
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)nssv15907397
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.031565


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