A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4334070



Internal ID19839364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220115347..220120384hg38UCSC Ensembl
chr1:220288689..220293726hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385038
hg195038
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789079
Samples
Known GenesIARS2, MIR194-1, MIR215, RNU5F-1
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)nsv4334070
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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