A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979437



Internal ID19704691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136817923..136943033hg38UCSC Ensembl
chr6:137139061..137264171hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38125111
hg19125111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4152324
Supporting Variants
Samples
Known GenesPEX7, SLC35D3
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)nssv15979437
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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