A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414755



Internal ID22472625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68852162..69022295hg38UCSC Ensembl
chr4:69717880..69888013hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38170134
hg19170134
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973931
Supporting Variants
Samples
Known GenesUGT2A3, UGT2B10
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414755
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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