A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249793



Internal ID20097362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89319165..89701560hg38UCSC Ensembl
chr16:89385573..89767968hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38382396
hg19382396
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958436
Samples
Known GenesANKRD11, CDK10, CHMP1A, CPNE7, DPEP1, LOC100287036, RPL13, SNORD68, SPATA2L, SPATA33, SPG7
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)nsv4249793
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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