A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153610



Internal ID20375697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129884160..129890660hg38UCSC Ensembl
chr7:129524000..129530500hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925100
Samples
Known GenesUBE2H
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)nsv4153610
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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