A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556007



Internal ID329154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129132059..129133605hg38UCSC Ensembl
chr3:128850902..128852448hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381547
hg191547
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939124
Samples
Known GenesISY1, ISY1-RAB43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556007
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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