A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183612



Internal ID20050649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46978362..47444362hg38UCSC Ensembl
chr10:48295000..48761000hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38466001
hg19466001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15793797
Samples
Known GenesGDF10, GDF2, PTPN20A, PTPN20B, RBP3, ZNF488
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)nsv4183612
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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