A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949801



Internal ID19675055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50057833..50058533hg38UCSC Ensembl
chr12:50451616..50452316hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211661
Supporting Variants
Samples
Known GenesASIC1
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)nssv15949801
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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