A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4139779



Internal ID20365685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20084107..20196895hg38UCSC Ensembl
chr7:20123730..20236518hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38112789
hg19112789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15919205
Samples
Known GenesMACC1, MACC1-AS1
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)nsv4139779
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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