A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4053944



Internal ID20178561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84985771..84992734hg38UCSC Ensembl
chr1:85451454..85458417hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg386964
hg196964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv89n166
Supporting Variantsnssv15852673
Samples
Known GenesMCOLN2
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)nsv4053944
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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