A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978545



Internal ID22753481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60019388..60127177hg38UCSC Ensembl
chr17:58096749..58204538hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38107790
hg19107790
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379833
Samples
Known GenesHEATR6, LOC645638, LOC653653, MIR4737
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978545
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