A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148569



Internal ID20025376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:64513406..65145766hg38UCSC Ensembl
chr7:63973784..64606144hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38632361
hg19632361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2363n166
Supporting Variantsnssv15981323
Samples
Known GenesCCT6P3, ERV3-1, LOC100128885, LOC641746, MIR6839, ZNF107, ZNF117, ZNF138, ZNF273, ZNF680
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)nsv4148569
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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