A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15851004



Internal ID19922987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38927970..38941231hg38UCSC Ensembl
chr1:39393642..39406903hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3813262
hg1913262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4042206
Supporting Variants
Samples
Known GenesRHBDL2
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)nssv15851004
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