A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4259276



Internal ID20103903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78096158..78469911hg38UCSC Ensembl
chr17:76092239..76465993hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38373754
hg19373755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958638
Samples
Known GenesAFMID, BIRC5, C17orf99, DNAH17, LOC100996291, PGS1, SOCS3, SYNGR2, TK1, TMC6, TMC8, TMEM235, TNRC6C, TNRC6C-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)nsv4259276
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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