A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805539



Internal ID19530939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1955174..1955275hg38UCSC Ensembl
chr12:2064340..2064441hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204572
Supporting Variants
Samples
Known GenesDCP1B
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)nssv15805539
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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