A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504673



Internal ID281470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46822342..46825821hg38UCSC Ensembl
chr12:47216125..47219604hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056758
Samples
Known GenesSLC38A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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