A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16001656



Internal ID20073612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43745768..43745769hg38UCSC Ensembl
chr12:44139571..44139572hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4541340
Supporting Variants
Samples
Known GenesPUS7L
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)nssv16001656
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.055669


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