A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163156



Internal ID20382637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146978280..147084110hg38UCSC Ensembl
chr7:146675372..146781202hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38105831
hg19105831
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2474n166
Supporting Variantsnssv15981503
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)nsv4163156
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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