A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16001167



Internal ID19726421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118986034..118986035hg38UCSC Ensembl
chr12:119423839..119423840hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4293095
Supporting Variants
Samples
Known GenesSRRM4
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)nssv16001167
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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