A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976222



Internal ID19701476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10681614..10682562hg38UCSC Ensembl
chr5:10681726..10682674hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4522542
Supporting Variants
Samples
Known GenesDAP
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)nssv15976222
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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