A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985520



Internal ID19710774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6566478..7022008hg38UCSC Ensembl
chr9:6566478..7022008hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38455531
hg19455531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164070
Supporting Variants
Samples
Known GenesGLDC, KDM4C
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)nssv15985520
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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