A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4160262



Internal ID20033849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6543199..6875285hg38UCSC Ensembl
chr9:6543199..6875285hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38332087
hg19332087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2683n166
Supporting Variantsnssv15985518
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)nsv4160262
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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