A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167554



Internal ID20385842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95043925..95061186hg38UCSC Ensembl
chr7:94673237..94690498hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3817262
hg1917262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981410
Samples
Known GenesPPP1R9A
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 ID32461652
Accession Number(s)nsv4167554
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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