A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4527996



Internal ID19911426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126690429..126927500hg38UCSC Ensembl
chr10:128378998..128616069hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38237072
hg19237072
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15949545
Samples
Known GenesDOCK1
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)nsv4527996
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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