A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4324179



Internal ID20185199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70162747..70176730hg38UCSC Ensembl
chr1:70628430..70642413hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813984
hg1913984
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788877
Samples
Known GenesLRRC40
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)nsv4324179
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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