A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15933267



Internal ID19658521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127936249..127947705hg38UCSC Ensembl
chr8:128948495..128959951hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3811457
hg1911457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4154221
Supporting Variants
Samples
Known GenesPVT1, TMEM75
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)nssv15933267
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001014


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