A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196957



Internal ID22346890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79151521..79151589hg38UCSC Ensembl
chr17:77147603..77147671hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419680
SamplesHG00514
Known GenesRBFOX3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196957
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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