A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191837



Internal ID20403255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94593680..94594432hg38UCSC Ensembl
chr10:96353437..96354189hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15797134
Samples
Known GenesHELLS
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)nsv4191837
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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