A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112884



Internal ID21444352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28785065..28785065hg38UCSC Ensembl
chr2:29007931..29007931hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621596
Supporting Variants
SamplesHG00732
Known GenesPPP1CB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112884
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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