A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4059196



Internal ID20182346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165546599..165546933hg38UCSC Ensembl
chr1:165515836..165516170hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962826
Samples
Known GenesLOC400794, LRRC52
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)nsv4059196
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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