A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257614



Internal ID20102735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36301501..36307141hg38UCSC Ensembl
chr18:33881464..33887104hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg385641
hg195641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15839020
Samples
Known GenesFHOD3
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)nsv4257614
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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