A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961530



Internal ID19686784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2237454..2274874hg38UCSC Ensembl
chr19:2237453..2274873hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3837421
hg1937421
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4265888
Supporting Variants
Samples
Known GenesAMH, C19orf35, JSRP1, MIR4321, OAZ1, SF3A2
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)nssv15961530
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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