A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970922



Internal ID22745857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67597984..67611731hg38UCSC Ensembl
chr17:65594100..65607847hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3813748
hg1913748
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386965
Samples
Known GenesPITPNC1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970922
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