A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111793



Internal ID21468202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231118124..231118124hg38UCSC Ensembl
chr2:231982838..231982838hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616061
Supporting Variants
SamplesHG03125
Known GenesHTR2B, PSMD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111793
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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