A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv572n166



Internal ID22800471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126335689..126747648hg38UCSC Ensembl
chr12:126820235..127232194hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38411960
hg19411960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4221270, nsv4213052
Samples
Known GenesLINC00943, LINC00944, LOC100128554
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)dgv572n166
Frequency
Sample Size10847
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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