A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558665



Internal ID331722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4276719..4278037hg38UCSC Ensembl
chr12:4385885..4387203hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg381319
hg191319
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054620
Samples
Known GenesCCND2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558665
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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