A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250052



Internal ID20097530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92632290..92741847hg38UCSC Ensembl
chr15:93175520..93285077hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38109558
hg19109558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953450
Samples
Known GenesFAM174B
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)nsv4250052
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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