A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126589



Internal ID20009535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6537767..6677767hg38UCSC Ensembl
chr6:6538000..6678000hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38140001
hg19140001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977969
Samples
Known GenesLY86, LY86-AS1
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)nsv4126589
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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