A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4135743



Internal ID20362741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75633726..75634704hg38UCSC Ensembl
chr6:76343442..76344420hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15912717
Samples
Known GenesSENP6
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4135743
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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