A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4141046



Internal ID20366614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127838204..127842289hg38UCSC Ensembl
chr6:128159349..128163434hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg384086
hg194086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15913706
Samples
Known GenesTHEMIS
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)nsv4141046
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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