A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4262514



Internal ID20452843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77241349..77295409hg38UCSC Ensembl
chr18:74953305..75007365hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3854061
hg1954061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960360
Samples
Known GenesGALR1
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)nsv4262514
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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