A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5604086



Internal ID21552753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110606868..110611444hg38UCSC Ensembl
chr12:111044673..111049249hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384577
hg194577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077143
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5604086
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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