A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15977620



Internal ID20049560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111540995..111569030hg38UCSC Ensembl
chr5:110876693..110904728hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3828036
hg1928036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4130214
Supporting Variants
Samples
Known GenesSTARD4-AS1
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)nssv15977620
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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