A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068037



Internal ID20313497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150577492..150578242hg38UCSC Ensembl
chr1:150549968..150550718hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38751
hg19751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15855297
Samples
Known GenesMCL1
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)nsv4068037
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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