A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231381



Internal ID20084972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110841704..110847497hg38UCSC Ensembl
chr12:111279508..111285301hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg385794
hg195794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15812649
Samples
Known GenesCCDC63
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)nsv4231381
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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