A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095054



Internal ID20333382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:64972110..65196265hg38UCSC Ensembl
chr4:65837828..66061983hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38224156
hg19224156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15892553
Samples
Known GenesLOC401134
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)nsv4095054
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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