A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15955785



Internal ID20027725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120666197..120679697hg38UCSC Ensembl
chr12:121104000..121117500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813501
hg1913501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4222508
Supporting Variants
Samples
Known GenesCABP1
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)nssv15955785
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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