A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979648



Internal ID20051588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149980715..150081916hg38UCSC Ensembl
chr6:150301851..150403052hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38101202
hg19101202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4138540
Supporting Variants
Samples
Known GenesRAET1K, RAET1L, ULBP3
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)nssv15979648
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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