A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15981708



Internal ID19706962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117743324..119522444hg38UCSC Ensembl
chr7:117383378..119162498hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg381779121
hg191779121
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4166917
Supporting Variants
Samples
Known GenesANKRD7, CTTNBP2, NAA38
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)nssv15981708
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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