A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15999653



Internal ID19724907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80799326..80799327hg38UCSC Ensembl
chr12:81193105..81193106hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg385989
hg195989
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557540
Supporting Variants
Samples
Known GenesLIN7A
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)nssv15999653
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001753


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