A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4053574



Internal ID20178289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167891408..167897775hg38UCSC Ensembl
chr1:167860646..167867013hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386368
hg196368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961972
Samples
Known GenesADCY10
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)nsv4053574
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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