A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15915096



Internal ID19640350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151431235..151465841hg38UCSC Ensembl
chr6:151752370..151786976hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3834607
hg1934607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4149379
Supporting Variants
Samples
Known GenesC6orf211, RMND1
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)nssv15915096
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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