A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112023



Internal ID21476704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238269460..238269460hg38UCSC Ensembl
chr2:239178101..239178101hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5620017
Supporting Variants
SamplesHG03486
Known GenesPER2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112023
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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