A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4167061



Internal ID20385493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143060043..143065989hg38UCSC Ensembl
chr7:142757140..142763086hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385947
hg195947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925264
Samples
Known GenesOR6W1P
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)nsv4167061
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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