A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052869



Internal ID20177774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107968411..107970145hg38UCSC Ensembl
chr1:108511033..108512767hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961355
Samples
Known GenesVAV3-AS1
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)nsv4052869
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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