A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16076975



Internal ID19802232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122326653..122326654hg38UCSC Ensembl
chr7:121966707..121966708hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4480863
Supporting Variants
Samples
Known GenesCADPS2
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)nssv16076975
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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