A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162989



Internal ID20382508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148395129..148395525hg38UCSC Ensembl
chr7:148092221..148092617hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981519
Samples
Known GenesCNTNAP2
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)nsv4162989
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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