A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15833945



Internal ID19559345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48196162..48197058hg38UCSC Ensembl
chr17:46273524..46274420hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4532556
Supporting Variants
Samples
Known GenesSKAP1
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)nssv15833945
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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