A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1635n166



Internal ID20167063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49180456..49283240hg38UCSC Ensembl
chr3:49217889..49320673hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38102785
hg19102785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4076943, nsv4080468
Samples
Known GenesC3orf62, C3orf84, CCDC36, MIR4271, USP4
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)dgv1635n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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