A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955530



Internal ID20027470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56621028..56630260hg38UCSC Ensembl
chr16:56654940..56664172hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg389233
hg199233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4233941
Supporting Variants
Samples
Known GenesMT1E
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 ID32461652
Accession Number(s)nssv15955530
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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