A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15853176



Internal ID19925116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58226804..58227973hg38UCSC Ensembl
chr1:58692476..58693645hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg381170
hg191170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4051696
Supporting Variants
Samples
Known GenesDAB1
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)nssv15853176
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