A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15806536



Internal ID19878622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27052516..27217886hg38UCSC Ensembl
chr12:27205449..27370819hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38165371
hg19165371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196566
Supporting Variants
Samples
Known GenesC12orf71
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)nssv15806536
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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