A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055510



Internal ID19833113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174968582..175319625hg38UCSC Ensembl
chr1:174937719..175288761hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38351044
hg19351043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963401
Samples
Known GenesCACYBP, KIAA0040, MRPS14, RABGAP1L, TNN
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)nsv4055510
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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