A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557303



Internal ID20287178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50765267..50765268hg38UCSC Ensembl
chr7:50832964..50832965hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16073577
Samples
Known GenesGRB10
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)nsv4557303
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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