A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791492



Internal ID19516883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127936249..127947705hg38UCSC Ensembl
chr8:128948495..128959951hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3811457
hg1911457
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4332960
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791492
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00106


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