A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494729



Internal ID271862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116393838..116429582hg38UCSC Ensembl
chr12:116831643..116867387hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3835745
hg1935745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684687
Samples
Known GenesMIR4472-2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494729
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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