A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4177279



Internal ID20046151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68784860..69072730hg38UCSC Ensembl
chr9:71399776..71687646hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38287871
hg19287871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986315
Samples
Known GenesFXN, PIP5K1B, PRKACG
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)nsv4177279
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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