A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948227



Internal ID19673481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:8836740..9205220hg38UCSC Ensembl
chr11:8858287..9226767hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38368481
hg19368481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4528493
Supporting Variants
Samples
Known GenesAKIP1, ASCL3, C11orf16, DENND5A, KRT8P41, MIR5691, NRIP3, SCUBE2, ST5, TMEM9B, TMEM9B-AS1
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)nssv15948227
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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