A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548346



Internal ID20921533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220037495..220037932hg38UCSC Ensembl
chr1:220210837..220211274hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38438
hg19438
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248677
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548346
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer