A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065087



Internal ID19964664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202359106..202369020hg38UCSC Ensembl
chr1:202328234..202338148hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389915
hg199915
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15847492
Samples
Known GenesPPP1R12B
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)nsv4065087
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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