A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4067710



Internal ID20313272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165731562..165793595hg38UCSC Ensembl
chr1:165700799..165762832hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3862034
hg1962034
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962829
Samples
Known GenesTMCO1
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)nsv4067710
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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