A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15830312



Internal ID19555712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30414793..30414847hg38UCSC Ensembl
chr16:30426114..30426168hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4530857
Supporting Variants
Samples
Known GenesZNF771
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)nssv15830312
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.016189


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