A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15802959



Internal ID19875045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60702545..60704251hg38UCSC Ensembl
chr11:60470018..60471724hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381707
hg191707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4197350
Supporting Variants
Samples
Known GenesMS4A8
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)nssv15802959
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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