A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241327



Internal ID20091712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74721605..74745146hg38UCSC Ensembl
chr15:75013946..75037487hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3823542
hg1923542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826184
Samples
Known GenesCYP1A1
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)nsv4241327
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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