A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4088651



Internal ID19981923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63878598..63878729hg38UCSC Ensembl
chr3:63864274..63864405hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15879037
Samples
Known GenesATXN7
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)nsv4088651
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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