A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15907209



Internal ID19632463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16307497..16312602hg38UCSC Ensembl
chr6:16307728..16312833hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385106
hg195106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119962
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 ID12345678
Accession Number(s)nssv15907209
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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