A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110885



Internal ID21443165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191964333..191964333hg38UCSC Ensembl
chr2:192829059..192829059hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618965
Supporting Variants
SamplesHG00732
Known GenesTMEFF2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110885
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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