A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974511



Internal ID19699765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141660907..141661123hg38UCSC Ensembl
chr4:142582060..142582276hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4092674
Supporting Variants
Samples
Known GenesIL15
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)nssv15974511
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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