A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4551168



Internal ID19934357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56470818..56470819hg38UCSC Ensembl
chr6:56335616..56335617hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16067649
Samples
Known GenesDST, RNU6-71P
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)nsv4551168
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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