A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571521



Internal ID20301400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72297457..72317416hg38UCSC Ensembl
chr6:73007160..73027119hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3819960
hg1919960
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790816
Samples
Known GenesRIMS1
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)nsv4571521
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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