A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4207201



Internal ID20414388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49408787..49415139hg38UCSC Ensembl
chr12:49802570..49808922hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg386353
hg196353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15810539
Samples
Known GenesSPATS2
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)nsv4207201
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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