A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2295n166



Internal ID20167723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6786927..7334733hg38UCSC Ensembl
chr7:6826558..7374364hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38547807
hg19547807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4142392, nsv4140225, nsv4136809
Samples
Known GenesC1GALT1, CCZ1B, LOC100131257, LOC101927354, RSPH10B, RSPH10B2
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)dgv2295n166
Frequency
Sample Size10847
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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