A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16028501



Internal ID19753755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168110204..168110205hg38UCSC Ensembl
chr1:168079442..168079443hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4536331
Supporting Variants
Samples
Known GenesGPR161
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)nssv16028501
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004776


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