A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4285311



Internal ID20118738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45201672..45307915hg38UCSC Ensembl
chr20:43830313..43936555hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38106244
hg19106243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964356
Samples
Known GenesMATN4, RBPJL, SEMG1, SEMG2, SLPI
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)nsv4285311
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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