A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791165



Internal ID19516551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100499061..100696513hg38UCSC Ensembl
chr7:100096684..100294136hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38197453
hg19197453
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4333780
Supporting Variants
Samples
Known GenesACTL6B, AGFG2, FBXO24, GIGYF1, GNB2, LRCH4, MOSPD3, PCOLCE, PCOLCE-AS1, SAP25, TFR2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791165
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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