A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15915990



Internal ID19641244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151373218..151373850hg38UCSC Ensembl
chr6:151694353..151694985hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4136473
Supporting Variants
Samples
Known GenesZBTB2
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)nssv15915990
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000747


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