A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558931



Internal ID331981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13587224..13587291hg38UCSC Ensembl
chr12:13740158..13740225hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688482
Samples
Known GenesGRIN2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558931
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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