A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068818



Internal ID20314069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180907814..180924338hg38UCSC Ensembl
chr1:180876950..180893474hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3816525
hg1916525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962852
Samples
Known GenesKIAA1614
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)nsv4068818
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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