A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948254



Internal ID19673508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:10489510..10517567hg38UCSC Ensembl
chr11:10511057..10539114hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3828058
hg1928058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4195609
Supporting Variants
Samples
Known GenesAMPD3, MIR4485, MTRNR2L8, RNF141
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)nssv15948254
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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