A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4245067



Internal ID20094186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84391107..84946695hg38UCSC Ensembl
chr16:84424713..84980301hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38555589
hg19555589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833998
Samples
Known GenesATP2C2, COTL1, CRISPLD2, KLHL36, TLDC1, USP10
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)nsv4245067
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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