A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245722



Internal ID20441300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22977223..23015409hg38UCSC Ensembl
chr15:22857659..22895845hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3838187
hg1938187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15824412
Samples
Known GenesCYFIP1, TUBGCP5
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)nsv4245722
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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