A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4564330



Internal ID20294219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3170276..5275478hg38UCSC Ensembl
chr8:3027798..5133000hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg382105203
hg192105203
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791285
Samples
Known GenesCSMD1
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)nsv4564330
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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