A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5935404



Internal ID22710745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49548649..49548791hg38UCSC Ensembl
chr12:49942432..49942574hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359116
Samples
Known GenesKCNH3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5935404
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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