A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15917778



Internal ID19989718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:3349445..3480385hg38UCSC Ensembl
chr7:3389077..3520017hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38130941
hg19130941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4133485
Supporting Variants
Samples
Known GenesSDK1
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)nssv15917778
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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