A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4064659



Internal ID19964356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112714344..112743248hg38UCSC Ensembl
chr1:113256966..113285870hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3828905
hg1928905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15854644
Samples
Known GenesFAM19A3, PPM1J
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)nsv4064659
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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