A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4283932



Internal ID20118140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46671737..46709142hg38UCSC Ensembl
chr20:45300376..45337781hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3837406
hg1937406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15858750
Samples
Known GenesSLC13A3, TP53RK
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)nsv4283932
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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