A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4051233



Internal ID19830012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62451380..62455050hg38UCSC Ensembl
chr1:62917051..62920721hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383671
hg193671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15853816
Samples
Known GenesDOCK7, USP1
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)nsv4051233
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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