A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513178



Internal ID289710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68940128..68946128hg38UCSC Ensembl
chr12:69333908..69339908hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688851
Samples
Known GenesCPM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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