A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191246



Internal ID20402819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:21762113..21763093hg38UCSC Ensembl
chr10:22051042..22052022hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15792936
Samples
Known GenesDNAJC1
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 ID32461652
Accession Number(s)nsv4191246
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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