A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv545n166



Internal ID22800444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93265068..93270224hg38UCSC Ensembl
chr12:93658844..93664000hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385157
hg195157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4217398, nsv4221134
Samples
Known GenesLOC643339
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)dgv545n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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