A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576326



Internal ID19959515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35244357..35244358hg38UCSC Ensembl
chr17:33571376..33571377hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16016821
Samples
Known GenesSLFN5
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)nsv4576326
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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