A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1157n166



Internal ID22801056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38735931..38736790hg38UCSC Ensembl
chr19:39226571..39227430hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4257152, nsv4259751, nsv4268575
Samples
Known GenesCAPN12
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)dgv1157n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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