A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977688



Internal ID20049628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93757393..93766998hg38UCSC Ensembl
chr5:93093099..93102704hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg389606
hg199606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4125271
Supporting Variants
Samples
Known GenesFAM172A
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)nssv15977688
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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