A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15918744



Internal ID19990684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:18545815..18547828hg38UCSC Ensembl
chr7:18585438..18587451hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg382014
hg192014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4136560
Supporting Variants
Samples
Known GenesHDAC9
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)nssv15918744
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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