A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340108



Internal ID19840549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68612001..69442414hg38UCSC Ensembl
chr12:69005781..69836194hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38830414
hg19830414
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787796
Samples
Known GenesCPM, CPSF6, LOC100130075, LOC100507250, LYZ, MDM2, MIR1279, NUP107, RAP1B, SLC35E3, SNORA70G, YEATS4
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)nsv4340108
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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