A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15828381



Internal ID19553781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3022999..3079999hg38UCSC Ensembl
chr16:3073000..3130000hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3857001
hg1957001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4244645
Supporting Variants
Samples
Known GenesCCDC64B, HCFC1R1, IL32, LOC100128770, MMP25, THOC6
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)nssv15828381
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000052


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