A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040520



Internal ID19822483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15581745..15591353hg38UCSC Ensembl
chr1:15908240..15917848hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg389609
hg199609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv28n166
Supporting Variantsnssv15849168
Samples
Known GenesAGMAT
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)nsv4040520
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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