A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144593



Internal ID20022456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73226335..74026175hg38UCSC Ensembl
chr6:73936058..74735891hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38799841
hg19799834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979378
Samples
Known GenesC6orf147, CD109, DDX43, DPPA5, EEF1A1, KHDC1, KHDC3L, MB21D1, MTO1, OOEP, SLC17A5
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 ID12345678
Accession Number(s)nsv4144593
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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