A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951764



Internal ID19677018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:330518..580767hg38UCSC Ensembl
chr12:439684..689933hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38250250
hg19250250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211993
Supporting Variants
Samples
Known GenesB4GALNT3, CCDC77, KDM5A, NINJ2
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)nssv15951764
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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