A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907231



Internal ID19979171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16673941..16685085hg38UCSC Ensembl
chr6:16674172..16685316hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3811145
hg1911145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123531
Supporting Variants
Samples
Known GenesATXN1
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)nssv15907231
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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