A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4141789



Internal ID20020462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52188877..52188968hg38UCSC Ensembl
chr6:52053675..52053766hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978592
Samples
Known GenesIL17A
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)nsv4141789
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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