A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958657



Internal ID20030597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81661970..81668970hg38UCSC Ensembl
chr17:79629000..79636000hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4254652
Supporting Variants
Samples
Known GenesCCDC137, OXLD1
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)nssv15958657
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000581


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