A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4558015



Internal ID20287894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36384881..36388299hg38UCSC Ensembl
chr6:36352658..36356076hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790761
Samples
Known GenesETV7
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)nsv4558015
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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