A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4157242



Internal ID20031657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144741174..144808520hg38UCSC Ensembl
chr8:145966559..146033905hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3867347
hg1967347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985325
Samples
Known GenesMIR6850, RPL8, ZNF251, ZNF34, ZNF517
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)nsv4157242
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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