A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4045887



Internal ID19826256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55029217..55043368hg38UCSC Ensembl
chr1:55494890..55509041hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3814152
hg1914152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15852771
Samples
Known GenesPCSK9
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)nsv4045887
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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