A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15809395



Internal ID19881481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55216507..55220634hg38UCSC Ensembl
chr12:55610291..55614418hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg384128
hg194128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4197785
Supporting Variants
Samples
Known Genes
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)nssv15809395
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009219


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