A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329162



Internal ID20185527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40526724..40529891hg38UCSC Ensembl
chr1:40992396..40995563hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383168
hg193168
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789174
Samples
Known Genes
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)nsv4329162
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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