A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941106



Internal ID22716525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101466564..101467847hg38UCSC Ensembl
chr12:101860342..101861625hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381284
hg191284
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354190
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941106
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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