A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4146992



Internal ID20370912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:81998843..82004330hg38UCSC Ensembl
chr7:81628159..81633646hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg385488
hg195488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15921163
Samples
Known GenesCACNA2D1
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)nsv4146992
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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