A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954157



Internal ID19679411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30386743..30391268hg38UCSC Ensembl
chr16:30398064..30402589hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384526
hg194526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4234831
Supporting Variants
Samples
Known GenesZNF48
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)nssv15954157
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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