A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544522



Internal ID318659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044600..105044600hg38UCSC Ensembl
chr12:105438378..105438378hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690550
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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