A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509711



Internal ID286359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128764201..128795022hg38UCSC Ensembl
chr12:129248746..129279567hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3830822
hg1930822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685344
Samples
Known GenesSLC15A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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