A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111459



Internal ID21468140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219270701..219270701hg38UCSC Ensembl
chr2:220135423..220135423hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383145
hg193145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620733
Supporting Variants
SamplesHG03125
Known GenesTUBA4B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111459
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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