A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4110576



Internal ID19998215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87264583..87307228hg38UCSC Ensembl
chr4:88185735..88228380hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842646
hg1942646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15893345
Samples
Known GenesHSD17B13, MIR5705
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)nsv4110576
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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