A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605983



Internal ID21554288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80494682..80494682hg38UCSC Ensembl
chr2:80721807..80721807hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114713
SamplesNA12878
Known GenesCTNNA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605983
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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