A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4132900



Internal ID20360682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:69774447..69809054hg38UCSC Ensembl
chr7:69239433..69274040hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3834608
hg1934608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2379n166
Supporting Variantsnssv15920989
Samples
Known GenesAUTS2
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)nsv4132900
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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