A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241811



Internal ID20438701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:26006775..26010411hg38UCSC Ensembl
chr15:26251922..26255558hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg383637
hg193637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15825081
Samples
Known GenesLOC100128714
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)nsv4241811
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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