A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246684



Internal ID22051294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132128607..132128607hg38UCSC Ensembl
chr8:133140854..133140854hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840250
Samples
Known GenesKCNQ3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246684
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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