A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511941



Internal ID288509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102081211..102081386hg38UCSC Ensembl
chr12:102474989..102475164hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690401
Samples
Known GenesNUP37
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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