A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183119



Internal ID20396990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:32581985..32598989hg38UCSC Ensembl
chr10:32870913..32887917hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3817005
hg1917005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15793494
Samples
Known GenesCCDC7
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)nsv4183119
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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