A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4098645



Internal ID20336050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134584158..134678158hg38UCSC Ensembl
chr3:134303000..134397000hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3894001
hg1994001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15884531
Samples
Known GenesKY
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)nsv4098645
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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