A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175025



Internal ID20391245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104323535..104328454hg38UCSC Ensembl
chr10:106083293..106088212hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg384920
hg194920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15797620
Samples
Known GenesITPRIP
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)nsv4175025
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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