A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15908369



Internal ID19980309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171408654..171410482hg38UCSC Ensembl
chr5:170835658..170837486hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381829
hg191829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117961
Supporting Variants
Samples
Known GenesNPM1
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)nssv15908369
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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