A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4146572



Internal ID20023913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65203540..65636799hg38UCSC Ensembl
chr6:65913433..66346692hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38433260
hg19433260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911130
Samples
Known GenesEYS, LOC441155
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 ID12345678
Accession Number(s)nsv4146572
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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