A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16000997



Internal ID19726251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56113865..56113866hg38UCSC Ensembl
chr12:56507649..56507650hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4504531
Supporting Variants
Samples
Known GenesPA2G4
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)nssv16000997
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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