A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4069720



Internal ID19968018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219864372..220139152hg38UCSC Ensembl
chr1:220037714..220312494hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38274781
hg19274781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962881
Samples
Known GenesBPNT1, EPRS, IARS2, MIR194-1, MIR215, RNU5F-1, SLC30A10
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)nsv4069720
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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