A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv195n166



Internal ID22800094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245009472..245014570hg38UCSC Ensembl
chr1:245172774..245177872hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385099
hg195099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4068462, nsv4060109
Samples
Known GenesEFCAB2
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)dgv195n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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