A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16068711



Internal ID19793965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56864497..56864498hg38UCSC Ensembl
chr6:56729295..56729296hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4571718
Supporting Variants
Samples
Known GenesDST
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)nssv16068711
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.062871


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