A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15836633



Internal ID19562033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58698892..58749045hg38UCSC Ensembl
chr17:56776253..56826406hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3850154
hg1950154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4260755
Supporting Variants
Samples
Known GenesRAD51C
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)nssv15836633
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000094


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