A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250726



Internal ID20444658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:56190601..56212316hg38UCSC Ensembl
chr15:56482799..56504514hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3821716
hg1921716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15824779
Samples
Known GenesRFX7
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)nsv4250726
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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