A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17089564



Internal ID21458105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44873900..44873900hg38UCSC Ensembl
chr17:42951268..42951268hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5661505
Supporting Variants
SamplesHG02587
Known GenesEFTUD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17089564
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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