A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4534951



Internal ID20265021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229486325..229486326hg38UCSC Ensembl
chr1:229622072..229622073hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16028179
Samples
Known GenesNUP133
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)nsv4534951
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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