A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175813



Internal ID20391809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109984255..110014926hg38UCSC Ensembl
chr9:112746535..112777206hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3830672
hg1930672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15937633
Samples
Known GenesPALM2-AKAP2
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)nsv4175813
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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