A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494227



Internal ID271379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56675657..56676701hg38UCSC Ensembl
chr12:57069441..57070485hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057681
Samples
Known GenesPTGES3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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