A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953390



Internal ID19678644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29591540..29690070hg38UCSC Ensembl
chr16:29602861..29701391hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3898531
hg1998531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4238179
Supporting Variants
Samples
Known GenesQPRT, SLC7A5P1, SPN
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)nssv15953390
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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