A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15878304



Internal ID19950244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57653516..57669760hg38UCSC Ensembl
chr3:57639243..57655487hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3816245
hg1916245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4072678
Supporting Variants
Samples
Known GenesDENND6A
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 ID32461652
Accession Number(s)nssv15878304
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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