A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv135n166



Internal ID22800034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179196221..179201225hg38UCSC Ensembl
chr1:179165356..179170360hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385005
hg195005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4065775, nsv4066814
Samples
Known GenesABL2
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)dgv135n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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