A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976003



Internal ID20047943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126784418..126785203hg38UCSC Ensembl
chr5:126120110..126120895hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4122705
Supporting Variants
Samples
Known GenesLMNB1
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)nssv15976003
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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