A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4313474



Internal ID20184525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21311635..21318920hg38UCSC Ensembl
chr1:21638128..21645413hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387286
hg197286
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789112
Samples
Known GenesECE1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4313474
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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