A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15852631



Internal ID19577888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84080729..84080947hg38UCSC Ensembl
chr1:84546412..84546630hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518081
Supporting Variants
Samples
Known GenesPRKACB
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)nssv15852631
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007192


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