A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947387



Internal ID19672641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65021321..65057398hg38UCSC Ensembl
chr11:64788793..64824870hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3836078
hg1936078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4209290
Supporting Variants
Samples
Known GenesARL2, ARL2-SNX15, NAALADL1, SAC3D1, SNX15
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)nssv15947387
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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