A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518589



Internal ID19902019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238021699..238768700hg38UCSC Ensembl
chr1:238184999..238932000hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38747002
hg19747002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965313
Samples
Known GenesLINC01139
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)nsv4518589
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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