A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494120



Internal ID271277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130497728..130587728hg38UCSC Ensembl
chr12:130982273..131072273hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3890001
hg1990001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685453
Samples
Known GenesRIMBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494120
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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