A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787486



Internal ID19512824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5194467..5244012hg38UCSC Ensembl
chr11:5215697..5265242hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3849546
hg1949546
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4336115
Supporting Variants
Samples
Known GenesHBB, HBBP1, HBD, OR51V1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15787486
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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