A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4188483



Internal ID20400800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114249948..114253870hg38UCSC Ensembl
chr10:116009707..116013629hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg383923
hg193923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15798590
Samples
Known GenesVWA2
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)nsv4188483
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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