A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15916541



Internal ID19641795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:169679698..169750661hg38UCSC Ensembl
chr6:170079794..170150757hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3870964
hg1970964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4145417
Supporting Variants
Samples
Known GenesC6orf120, PHF10, TCTE3, WDR27
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)nssv15916541
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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