A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4178453



Internal ID20393678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23222110..23225645hg38UCSC Ensembl
chr10:23511039..23514574hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg383536
hg193536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15793011
Samples
Known GenesC10orf115
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)nsv4178453
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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