A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185054



Internal ID20398378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80279734..80279833hg38UCSC Ensembl
chr10:82039490..82039589hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948857
Samples
Known GenesMAT1A
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)nsv4185054
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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