A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4196630



Internal ID20060051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26341848..26346487hg38UCSC Ensembl
chr12:26494781..26499420hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg384640
hg194640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15806493
Samples
Known GenesITPR2
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)nsv4196630
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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