A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4290597



Internal ID20121116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44514602..44516413hg38UCSC Ensembl
chr20:43143243..43145054hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg381812
hg191812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1472n166
Supporting Variantsnssv15858637
Samples
Known GenesSERINC3
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)nsv4290597
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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