A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359116



Internal ID22584785
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 StatusS
Merged Variantsnsv5935404
Supporting Variants
Samples
Known GenesKCNH3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359116
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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