A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4258509



Internal ID20103364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61981251..62425653hg38UCSC Ensembl
chr17:60058612..60503014hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38444403
hg19444403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959600
Samples
Known GenesEFCAB3, MED13, METTL2A, TBC1D3P2
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)nsv4258509
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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