A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047035



Internal ID19827088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40257441..40262925hg38UCSC Ensembl
chr1:40723113..40728597hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385485
hg195485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851090
Samples
Known GenesZMPSTE24
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)nsv4047035
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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