A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251184



Internal ID20444962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71816386..71817262hg38UCSC Ensembl
chr15:72108727..72109603hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956822
Samples
Known GenesNR2E3
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)nsv4251184
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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