A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501834



Internal ID278724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71779418..71890466hg38UCSC Ensembl
chr12:72173198..72284246hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38111049
hg19111049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688995
Samples
Known GenesMRS2P2, RAB21, TBC1D15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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