A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16292837



Internal ID20502055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93808490..93808490hg38UCSC Ensembl
chr8:94820718..94820718hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750381
Supporting Variants
Samples
Known GenesTMEM67
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16292837
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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