A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4058400



Internal ID20181767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230362978..230366197hg38UCSC Ensembl
chr1:230498724..230501943hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg383220
hg193220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15848132
Samples
Known GenesPGBD5
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)nsv4058400
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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