A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4139217



Internal ID20365271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97324124..97328423hg38UCSC Ensembl
chr6:97772000..97776299hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911550
Samples
Known GenesMIR548H3
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)nsv4139217
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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