A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556554



Internal ID329690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179850073..179850275hg38UCSC Ensembl
chr1:179819208..179819410hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893263
Samples
Known GenesTOR1AIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556554
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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