A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16022085



Internal ID19747339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44231784..44231785hg38UCSC Ensembl
chr19:44735937..44735938hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381170
hg191170
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4573276
Supporting Variants
Samples
Known GenesZNF227
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)nssv16022085
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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