A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4194124



Internal ID20404913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124483008..124486034hg38UCSC Ensembl
chr10:126171577..126174603hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383027
hg193027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15799167
Samples
Known GenesLHPP
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)nsv4194124
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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