A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147483



Internal ID346664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38936874..38937112hg38UCSC Ensembl
chr2:39164015..39164253hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912504
Samples
Known GenesARHGEF33
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147483
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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