A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833006



Internal ID19905092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4873061..4901883hg38UCSC Ensembl
chr17:4776356..4805178hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3828823
hg1928823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4245283
Supporting Variants
Samples
Known GenesC17orf107, CHRNE, MINK1
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)nssv15833006
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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