A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167624



Internal ID20385889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147006376..147094817hg38UCSC Ensembl
chr7:146703468..146791909hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3888442
hg1988442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2474n166
Supporting Variantsnssv15981504
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)nsv4167624
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer