A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4038417



Internal ID19821043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74712936..74716664hg38UCSC Ensembl
chr1:75178620..75182348hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383729
hg193729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15852140
Samples
Known GenesCRYZ
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)nsv4038417
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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