A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558542



Internal ID20288422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15062885..15064370hg38UCSC Ensembl
chr21:16435206..16436691hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381486
hg191486
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789283
Samples
Known GenesNRIP1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4558542
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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