A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4524653



Internal ID20254772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77261069..77261760hg38UCSC Ensembl
chr7:76890386..76891077hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15922415
Samples
Known GenesCCDC146
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 ID32461652
Accession Number(s)nsv4524653
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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