A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977433



Internal ID20049373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83676123..83676252hg38UCSC Ensembl
chr5:82971942..82972071hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4129586
Supporting Variants
Samples
Known GenesHAPLN1
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)nssv15977433
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000187


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