A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4184121



Internal ID20397699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69297617..69300785hg38UCSC Ensembl
chr10:71057373..71060541hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg383169
hg193169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15794337
Samples
Known GenesHK1
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)nsv4184121
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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