A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4282337



Internal ID20117431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25015257..26202005hg38UCSC Ensembl
chr20:24995893..26182641hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg381186749
hg191186749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963914
Samples
Known GenesABHD12, ACSS1, ENTPD6, FAM182A, FAM182B, GINS1, LOC100134868, LOC284798, LOC284801, NANP, NCOR1P1, NINL, PYGB, VSX1, ZNF337
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)nsv4282337
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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