A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241503



Internal ID20438501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:44856235..44971643hg38UCSC Ensembl
chr15:45148433..45263841hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38115409
hg19115409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv788n166
Supporting Variantsnssv15956482
Samples
Known GenesC15orf43
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)nsv4241503
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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