A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15837154



Internal ID19909240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62740168..62742380hg38UCSC Ensembl
chr17:60817529..60819741hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382213
hg192213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4269959
Supporting Variants
Samples
Known GenesMARCH10, MIR548W
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)nssv15837154
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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