A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955888



Internal ID20027828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132730342..132730455hg38UCSC Ensembl
chr12:133306928..133307041hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4222889
Supporting Variants
Samples
Known GenesANKLE2
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 ID32461652
Accession Number(s)nssv15955888
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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