A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4254749



Internal ID20100722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50426624..50566187hg38UCSC Ensembl
chr17:48503985..48643548hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38139564
hg19139564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960004
Samples
Known GenesACSF2, CACNA1G, CACNA1G-AS1, CHAD, EPN3, MYCBPAP, RSAD1, SPATA20
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)nsv4254749
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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