A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566492



Internal ID19949692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6757354..6773946hg38UCSC Ensembl
chr20:6738001..6754593hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3816593
hg1916593
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789201
Samples
Known GenesBMP2
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)nsv4566492
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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