A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567030



Internal ID19950229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4398696..4642752hg38UCSC Ensembl
chr16:4448697..4692753hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38244057
hg19244057
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv847n166
Supporting Variantsnssv15788345
Samples
Known GenesC16orf96, CDIP1, CORO7, CORO7-PAM16, DNAJA3, HMOX2, MGRN1, NMRAL1, UBALD1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4567030
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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