A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15839009



Internal ID19564409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36137164..36138201hg38UCSC Ensembl
chr18:33717127..33718164hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4256255
Supporting Variants
Samples
Known GenesELP2
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)nssv15839009
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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