A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900353



Internal ID19625607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41143559..41143856hg38UCSC Ensembl
chr5:41143661..41143958hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4113096
Supporting Variants
Samples
Known GenesC6
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)nssv15900353
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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