A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17114124



Internal ID21504591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30693531..30693531hg38UCSC Ensembl
chr2:30916397..30916397hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610156
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17114124
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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