A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983553



Internal ID20055493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40594096..40604168hg38UCSC Ensembl
chr8:40451615..40461687hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3810073
hg1910073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4159133
Supporting Variants
Samples
Known GenesZMAT4
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)nssv15983553
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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