A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960464



Internal ID22735437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:80591457..80591457hg38UCSC Ensembl
chr2:80818582..80818582hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407229
Samples
Known GenesCTNNA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960464
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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