A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4147514



Internal ID20024598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65946013..65963013hg38UCSC Ensembl
chr7:65411000..65428000hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3817001
hg1917001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981743
Samples
Known GenesGUSB, VKORC1L1
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)nsv4147514
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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