A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105143



Internal ID19994193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41994992..41997564hg38UCSC Ensembl
chr4:41997009..41999581hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382573
hg192573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15890072
Samples
Known GenesSLC30A9
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)nsv4105143
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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