A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336921



Internal ID19839897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14123919..14774327hg38UCSC Ensembl
chr12:14276853..14927261hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38650409
hg19650409
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787708
Samples
Known GenesATF7IP, GUCY2C, HIST4H4, PLBD1
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)nsv4336921
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer