A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6028833



Internal ID21938176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49557048..49557109hg38UCSC Ensembl
chr12:49950831..49950892hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17607607
Samples
Known GenesKCNH3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6028833
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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