A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4289730



Internal ID20120720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53443941..53448858hg38UCSC Ensembl
chr20:52060480..52065397hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg384918
hg194918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15861788
Samples
Known GenesTSHZ2
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)nsv4289730
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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