A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142329



Internal ID20367543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79802641..79808352hg38UCSC Ensembl
chr6:80512358..80518069hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg385712
hg195712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15912799
Samples
Known GenesC6orf7
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)nsv4142329
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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