A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572410



Internal ID19955600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110392434..110393676hg38UCSC Ensembl
chr6:110713637..110714879hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790876
Samples
Known GenesDDO
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4572410
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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