A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4064439



Internal ID20310884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180713704..180763077hg38UCSC Ensembl
chr1:180682840..180732213hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3849374
hg1949374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15857488
Samples
Known GenesXPR1
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)nsv4064439
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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