A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557073



Internal ID20286948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45637190..45637191hg38UCSC Ensembl
chr7:45676789..45676790hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16074079
Samples
Known GenesADCY1
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)nsv4557073
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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