A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144943



Internal ID20369394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:69864548..69881835hg38UCSC Ensembl
chr7:69329534..69346821hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3817288
hg1917288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15920995
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)nsv4144943
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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