A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500921



Internal ID277841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50542000..50552128hg38UCSC Ensembl
chr12:50935783..50945911hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3810129
hg1910129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058500
Samples
Known GenesDIP2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500921
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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