A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114901



Internal ID20348023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17272505..17273211hg38UCSC Ensembl
chr5:17272614..17273320hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15897931
Samples
Known GenesBASP1
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)nsv4114901
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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