A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963518



Internal ID19688773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77343243..77613358hg38UCSC Ensembl
chr1:77808928..78079043hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38270116
hg19270116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4038483
Supporting Variants
Samples
Known GenesAK5, ZZZ3
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)nssv15963518
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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