A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967191



Internal ID20039131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76972647..77018132hg38UCSC Ensembl
chr2:77199773..77245258hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3845486
hg1945486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071978
Supporting Variants
Samples
Known GenesLRRTM4
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 ID32461652
Accession Number(s)nssv15967191
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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