A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4053632



Internal ID19831727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168671259..168697532hg38UCSC Ensembl
chr1:168640497..168666770hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3826274
hg1926274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961979
Samples
Known GenesDPT
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 ID12345678
Accession Number(s)nsv4053632
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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