A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973683



Internal ID20045623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77826344..78059846hg38UCSC Ensembl
chr4:78747498..78981000hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38233503
hg19233503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4520348
Supporting Variants
Samples
Known GenesFRAS1, MRPL1
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)nssv15973683
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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