A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4205777



Internal ID20066659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68247473..68252026hg38UCSC Ensembl
chr12:68641253..68645806hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15812092
Samples
Known GenesIL22
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)nsv4205777
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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