A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572078



Internal ID20301956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148869290..148869291hg38UCSC Ensembl
chr7:148566382..148566383hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16078155
Samples
Known GenesEZH2
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)nsv4572078
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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