A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16286088



Internal ID20495306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190430775..190430775hg38UCSC Ensembl
chr2:191295501..191295501hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4764667
Supporting Variants
Samples
Known GenesMFSD6
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16286088
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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