A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979210



Internal ID20051150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146171993..146182848hg38UCSC Ensembl
chr6:146493129..146503984hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3810856
hg1910856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4141661
Supporting Variants
Samples
Known GenesGRM1
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)nssv15979210
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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