A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616465



Internal ID21564770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126112799..126112799hg38UCSC Ensembl
chr2:126870376..126870376hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108658
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616465
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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