A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562363



Internal ID335320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111328428..111337764hg38UCSC Ensembl
chr12:111766232..111775568hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg389337
hg199337
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684477
Samples
Known GenesCUX2
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562363
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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