A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4272382



Internal ID20113075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76465050..76534431hg38UCSC Ensembl
chr17:74461132..74530513hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3869382
hg1969382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958604
Samples
Known GenesAANAT, CYGB, PRCD, RHBDF2
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)nsv4272382
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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