A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4256971



Internal ID20102279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2198579..2338094hg38UCSC Ensembl
chr19:2198578..2338093hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38139516
hg19139516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961526
Samples
Known GenesAMH, C19orf35, DOT1L, JSRP1, LINGO3, LSM7, MIR1227, MIR4321, MIR6789, OAZ1, PLEKHJ1, SF3A2, SPPL2B
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)nsv4256971
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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