A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644540



Internal ID21592845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116486618..116486618hg38UCSC Ensembl
chr12:116924423..116924423hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077240
SamplesHG01114
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644540
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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