A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4116822



Internal ID20002690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13791992..14184178hg38UCSC Ensembl
chr5:13792101..14184287hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38392187
hg19392187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976255
Samples
Known GenesDNAH5, TRIO
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)nsv4116822
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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