A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4146226



Internal ID20023657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66844323..66863996hg38UCSC Ensembl
chr7:66309310..66328983hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3819674
hg1919674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2371n166
Supporting Variantsnssv15920961
Samples
Known GenesGTF2IRD1P1
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 ID12345678
Accession Number(s)nsv4146226
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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