A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4217301



Internal ID20074954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28143286..28150876hg38UCSC Ensembl
chr13:28717423..28725013hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg387591
hg197591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15813611
Samples
Known GenesPAN3
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)nsv4217301
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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