A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4178265



Internal ID20393538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49959918..49988137hg38UCSC Ensembl
chr10:51247000..51278100hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3828220
hg1931101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15793914
Samples
Known GenesLOC728407, PARG
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)nsv4178265
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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