A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15899429



Internal ID19624683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12420160..12681108hg38UCSC Ensembl
chr5:12420272..12681220hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38260949
hg19260949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4131505
Supporting Variants
Samples
Known GenesCT49
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 ID12345678
Accession Number(s)nssv15899429
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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