A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979198



Internal ID20051138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125695631..125708335hg38UCSC Ensembl
chr6:126016777..126029481hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3812705
hg1912705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4141454
Supporting Variants
Samples
Known GenesLOC643623
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)nssv15979198
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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