A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15880353



Internal ID19605607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48278781..48342513hg38UCSC Ensembl
chr3:48320271..48384003hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3863733
hg1963733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4076436
Supporting Variants
Samples
Known GenesNME6, SPINK8
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)nssv15880353
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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