A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17446769



Internal ID22504639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:57192370..57252549hg38UCSC Ensembl
chr8:58104929..58165108hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3860180
hg1960180
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967610
Supporting Variants
Samples
Known GenesLOC100507651
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17446769
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