A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16068033



Internal ID19793287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70575829..70575830hg38UCSC Ensembl
chr6:71285532..71285533hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4559503
Supporting Variants
Samples
Known GenesC6orf57
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)nssv16068033
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006462


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