A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4071239



Internal ID19969118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214283764..214287871hg38UCSC Ensembl
chr1:214457107..214461214hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg384108
hg194108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15846269
Samples
Known GenesSMYD2
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)nsv4071239
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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