A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951040



Internal ID19676294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62370488..62475508hg38UCSC Ensembl
chr11:62137960..62242980hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38105021
hg19105021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4197783
Supporting Variants
Samples
Known GenesAHNAK, ASRGL1, SCGB1A1
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)nssv15951040
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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