A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15853799



Internal ID19579053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62194980..62195340hg38UCSC Ensembl
chr1:62660652..62661012hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4052181
Supporting Variants
Samples
Known GenesL1TD1
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)nssv15853799
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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