A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554679



Internal ID327857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46896665..46915975hg38UCSC Ensembl
chr12:47290448..47309758hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3819311
hg1919311
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056768
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554679
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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