A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4066774



Internal ID19965899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110481154..110481897hg38UCSC Ensembl
chr1:111023776..111024519hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15854138
Samples
Known GenesCYMP
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)nsv4066774
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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