A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955904



Internal ID19681158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133103414..133227414hg38UCSC Ensembl
chr12:133680000..133804000hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38124001
hg19124001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4227982
Supporting Variants
Samples
Known GenesANHX, ZNF10, ZNF140, ZNF268, ZNF891
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)nssv15955904
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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