A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4166394



Internal ID20384989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147735812..147738254hg38UCSC Ensembl
chr7:147432904..147435346hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg382443
hg192443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15924827
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)nsv4166394
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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