A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979657



Internal ID20051597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150372318..150372812hg38UCSC Ensembl
chr6:150693454..150693948hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4135170
Supporting Variants
Samples
Known GenesIYD
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 ID32461652
Accession Number(s)nssv15979657
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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