A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271175



Internal ID20458910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40143820..40146725hg38UCSC Ensembl
chr17:38300073..38302978hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg382906
hg192906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15836287
Samples
Known GenesCASC3
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)nsv4271175
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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