A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16288528



Internal ID20497746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191964231..191964231hg38UCSC Ensembl
chr2:192828957..192828957hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757139
Supporting Variants
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16288528
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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