A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15814280



Internal ID19539680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122533740..122533951hg38UCSC Ensembl
chr12:123018287..123018498hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4530250
Supporting Variants
Samples
Known GenesKNTC1
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)nssv15814280
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.007889


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