A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511207



Internal ID287800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126159513..126449586hg38UCSC Ensembl
chr12:126644059..126934132hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38290074
hg19290074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685159
Samples
Known GenesLOC100128554
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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