A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126173



Internal ID20355920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:100337296..100478296hg38UCSC Ensembl
chr5:99673000..99814000hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38141001
hg19141001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2026n166
Supporting Variantsnssv15901333
Samples
Known GenesLOC100133050
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)nsv4126173
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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