A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507516



Internal ID284233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104812246..104812344hg38UCSC Ensembl
chr12:105206024..105206122hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690543
Samples
Known GenesSLC41A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507516
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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