A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16069264



Internal ID19794518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82889549..82889550hg38UCSC Ensembl
chr6:83599268..83599269hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4551781
Supporting Variants
Samples
Known Genes
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)nssv16069264
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001291


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer