A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249615



Internal ID20097254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27513620..27735238hg38UCSC Ensembl
chr16:27524941..27746559hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38221619
hg19221619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953332
Samples
Known GenesGTF3C1, KIAA0556
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)nsv4249615
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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