A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15933385



Internal ID20005325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130220910..130224424hg38UCSC Ensembl
chr8:131233156..131236670hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383515
hg193515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4163087
Supporting Variants
Samples
Known GenesASAP1
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)nssv15933385
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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