A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15952843



Internal ID19678097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4619101..5268941hg38UCSC Ensembl
chr11:4640331..5290171hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38649841
hg19649841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4192783
Supporting Variants
Samples
Known GenesHBB, HBBP1, HBD, HBE1, HBG1, HBG2, MMP26, OR51A2, OR51A4, OR51A7, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52E2, OR52J3, OR52R1
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)nssv15952843
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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