A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15852123



Internal ID19924077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74364045..74364667hg38UCSC Ensembl
chr1:74829729..74830351hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4045606
Supporting Variants
Samples
Known GenesFPGT-TNNI3K, TNNI3K
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)nssv15852123
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002859


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