A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576489



Internal ID19959678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48984180..48984181hg38UCSC Ensembl
chr13:49558316..49558317hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16005010
Samples
Known GenesFNDC3A
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)nsv4576489
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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