A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15960354



Internal ID20032294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77092593..77092721hg38UCSC Ensembl
chr18:74804549..74804677hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4271046
Supporting Variants
Samples
Known GenesMBP
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)nssv15960354
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000369


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