A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4291510



Internal ID19836871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41148367..41149390hg38UCSC Ensembl
chr20:39777007..39778030hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15858360
Samples
Known GenesPLCG1
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)nsv4291510
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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