A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4344950



Internal ID20188149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12572766..12613123hg38UCSC Ensembl
chr10:12614765..12655122hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3840358
hg1940358
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787287
Samples
Known GenesCAMK1D, MIR4480
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 ID32461652
Accession Number(s)nsv4344950
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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