A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974923



Internal ID20046863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:75083008..75496387hg38UCSC Ensembl
chr4:76008218..76421597hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38413380
hg19413380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4521571
Supporting Variants
Samples
Known GenesLOC441025, RCHY1
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)nssv15974923
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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