A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4240076



Internal ID20090915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34510429..35043830hg38UCSC Ensembl
chr15:34802630..35336031hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38533402
hg19533402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956362
Samples
Known GenesACTC1, AQR, GJD2, GOLGA8B, MIR1233-1, MIR1233-2, ZNF770
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)nsv4240076
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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