A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4271210



Internal ID20112253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82176281..82412415hg38UCSC Ensembl
chr17:80134157..80370291hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38236135
hg19236135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958672
Samples
Known GenesCCDC57, CD7, CSNK1D, MIR6787, OGFOD3, SECTM1, SLC16A3, TEX19, UTS2R
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)nsv4271210
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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