A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787567



Internal ID19512906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57188141..57188678hg38UCSC Ensembl
chr11:56955615..56956152hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4337641
Supporting Variants
Samples
Known GenesLRRC55
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)nssv15787567
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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