A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4277981



Internal ID20462197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57663795..57666886hg38UCSC Ensembl
chr20:56238851..56241942hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg383092
hg193092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15861839
Samples
Known GenesPMEPA1
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 ID32461652
Accession Number(s)nsv4277981
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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