A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560417



Internal ID19943614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:25448170..26972109hg38UCSC Ensembl
chr10:25737099..27261038hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381523940
hg191523940
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091025
Samples
Known GenesABI1, APBB1IP, GAD2, GPR158, LINC00202-1, LINC00202-2, LINC00264, LINC00836, MYO3A, PDSS1
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 ID12345678
Accession Number(s)nsv4560417
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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