A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4110678



Internal ID19998291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150936541..150938146hg38UCSC Ensembl
chr3:150654328..150655933hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381606
hg191606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15883679
Samples
Known GenesCLRN1
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 ID12345678
Accession Number(s)nsv4110678
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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