A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547943



Internal ID20921142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206135059..206135654hg38UCSC Ensembl
chr2:206999783..207000378hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258517
Samples
Known GenesNDUFS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547943
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