A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4229995



Internal ID20083978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42721364..42996364hg38UCSC Ensembl
chr13:43295500..43570500hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38275001
hg19275001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956219
Samples
Known GenesEPSTI1, FAM216B
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)nsv4229995
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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