A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055380



Internal ID19833017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158837112..158838396hg38UCSC Ensembl
chr1:158806902..158808186hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15855803
Samples
Known GenesMNDA
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 ID12345678
Accession Number(s)nsv4055380
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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