A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4149264



Internal ID20025862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12272463..12332525hg38UCSC Ensembl
chr7:12312089..12372151hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3860063
hg1960063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15917657
Samples
Known GenesVWDE
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)nsv4149264
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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