A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052684



Internal ID20177648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178922965..178927749hg38UCSC Ensembl
chr1:178892100..178896884hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384785
hg194785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv132n166
Supporting Variantsnssv15855905
Samples
Known Genes
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)nsv4052684
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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