A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16027760



Internal ID20099716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155017347..155017348hg38UCSC Ensembl
chr1:154989823..154989824hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4533271
Supporting Variants
Samples
Known GenesZBTB7B
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 ID32461652
Accession Number(s)nssv16027760
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.179876


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