A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4158614



Internal ID20379356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100215094..100218853hg38UCSC Ensembl
chr7:99812717..99816476hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg383760
hg193760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15920615
Samples
Known GenesGATS
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)nsv4158614
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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