A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164105



Internal ID20036630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:6421798..6421936hg38UCSC Ensembl
chr9:6421798..6421936hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15938681
Samples
Known GenesUHRF2
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)nsv4164105
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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