A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4045437



Internal ID20172575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77504297..77534657hg38UCSC Ensembl
chr1:77969982..78000342hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3830361
hg1930361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851895
Samples
Known GenesAK5
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)nsv4045437
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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