A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544563



Internal ID318695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105236135..105236156hg38UCSC Ensembl
chr12:105629913..105629934hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690558
Samples
Known GenesAPPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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