A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951761



Internal ID19677015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:262012..284446hg38UCSC Ensembl
chr12:371178..393612hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3822435
hg1922435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4201709
Supporting Variants
Samples
Known GenesKDM5A, SLC6A13
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)nssv15951761
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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