A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4133201



Internal ID20014230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20149031..20203615hg38UCSC Ensembl
chr7:20188654..20243238hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3854585
hg1954585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15919210
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 ID12345678
Accession Number(s)nsv4133201
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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