A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153788



Internal ID20029141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6470178..6791304hg38UCSC Ensembl
chr9:6470178..6791304hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38321127
hg19321127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2683n166
Supporting Variantsnssv15985516
Samples
Known GenesGLDC, KDM4C, UHRF2
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)nsv4153788
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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