A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573105



Internal ID20302980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1913236..2085185hg38UCSC Ensembl
chr6:1913470..2085419hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38171950
hg19171950
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790719
Samples
Known GenesGMDS
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)nsv4573105
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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