A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4143546



Internal ID20021711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5715376..6025448hg38UCSC Ensembl
chr7:5755007..6065079hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38310073
hg19310073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980658
Samples
Known GenesAIMP2, CCZ1, EIF2AK1, OCM, PMS2, RNF216, RSPH10B, RSPH10B2, ZNF815P
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)nsv4143546
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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