A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15811056



Internal ID19536456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71703265..71785772hg38UCSC Ensembl
chr12:72097045..72179552hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3882508
hg1982508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4198216
Supporting Variants
Samples
Known GenesRAB21, TMEM19
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)nssv15811056
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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