A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110984



Internal ID21458563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197506438..197506438hg38UCSC Ensembl
chr2:198371162..198371162hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610350
Supporting Variants
SamplesHG02587
Known GenesHSPE1-MOB4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110984
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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