A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164493



Internal ID20383602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124785822..124789797hg38UCSC Ensembl
chr7:124425876..124429851hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg383976
hg193976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15923126
Samples
Known GenesLOC154872
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)nsv4164493
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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