A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4338438



Internal ID19840197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105915838..106522778hg38UCSC Ensembl
chr6:106363713..106970653hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38606941
hg19606941
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790865
Samples
Known GenesAIM1, ATG5, PRDM1
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 ID12345678
Accession Number(s)nsv4338438
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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