A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4536044



Internal ID20266067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74727205..74727206hg38UCSC Ensembl
chr1:75192889..75192890hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383670
hg193670
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16025789
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 ID32461652
Accession Number(s)nsv4536044
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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