A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575456



Internal ID20305331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72693151..72693152hg38UCSC Ensembl
chr10:74452909..74452910hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15992778
Samples
Known GenesMCU
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)nsv4575456
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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